SEC31B c.994T>G ;(p.S332A)

Variant ID: 10-102265847-A-C

NM_015490.3(SEC31B):c.994T>G;(p.S332A)

This variant was identified in 28 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: SEC31B: S332A
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: SEC31B: 994T>G; Ser332Ala; rs2295774
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: SEC31B: 994T>G; S332A; rs2295774
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications
Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M
Publication Date: 2021-02-23

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 33623049
Variant Present in the following documents:
  • 41467_2021_21519_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2295774
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: SEC31B: 994T>G; rs2295774
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: SEC31B: 994T>G; Ser332Ala; rs2295774
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Discovery of novel heart rate-associated loci using the Exome Chip.

Human Molecular Genetics
van den Berg, Marten E ME; Warren, Helen R HR; Cabrera, Claudia P CP; Verweij, Niek N; Mifsud, Borbala B; Haessler, Jeffrey J; Bihlmeyer, Nathan A NA; Fu, Yi-Ping YP; Weiss, Stefan S; Lin, Henry J HJ; Grarup, Niels N; Li-Gao, Ruifang R; Pistis, Giorgio G; Shah, Nabi N; Brody, Jennifer A JA; Müller-Nurasyid, Martina M; Lin, Honghuang H; Mei, Hao H; Smith, Albert V AV; Lyytikäinen, Leo-Pekka LP; Hall, Leanne M LM; van Setten, Jessica J; Trompet, Stella S; Prins, Bram P BP; Isaacs, Aaron A; Radmanesh, Farid F; Marten, Jonathan J; Entwistle, Aiman A; Kors, Jan A JA; Silva, Claudia T CT; Alonso, Alvaro A; Bis, Joshua C JC; de Boer, Rudolf R; de Haan, Hugoline G HG; de Mutsert, Renée R; Dedoussis, George G; Dominiczak, Anna F AF; Doney, Alex S F ASF; Ellinor, Patrick T PT; Eppinga, Ruben N RN; Felix, Stephan B SB; Guo, Xiuqing X; Hagemeijer, Yanick Y; Hansen, Torben T; Harris, Tamara B TB; Heckbert, Susan R SR; Huang, Paul L PL; Hwang, Shih-Jen SJ; Kähönen, Mika M; Kanters, Jørgen K JK; Kolcic, Ivana I; Launer, Lenore J LJ; Li, Man M; Yao, Jie J; Linneberg, Allan A; Liu, Simin S; Macfarlane, Peter W PW; Mangino, Massimo M; Morris, Andrew D AD; Mulas, Antonella A; Murray, Alison D AD; Nelson, Christopher P CP; Orrú, Marco M; Padmanabhan, Sandosh S; Peters, Annette A; Porteous, David J DJ; Poulter, Neil N; Psaty, Bruce M BM; Qi, Lihong L; Raitakari, Olli T OT; Rivadeneira, Fernando F; Roselli, Carolina C; Rudan, Igor I; Sattar, Naveed N; Sever, Peter P; Sinner, Moritz F MF; Soliman, Elsayed Z EZ; Spector, Timothy D TD; Stanton, Alice V AV; Stirrups, Kathleen E KE; Taylor, Kent D KD; Tobin, Martin D MD; Uitterlinden, André A; Vaartjes, Ilonca I; Hoes, Arno W AW; van der Meer, Peter P; Völker, Uwe U; Waldenberger, Melanie M; Xie, Zhijun Z; Zoledziewska, Magdalena M; Tinker, Andrew A; Polasek, Ozren O; Rosand, Jonathan J; Jamshidi, Yalda Y; van Duijn, Cornelia M CM; Zeggini, Eleftheria E; Jukema, J Wouter JW; Asselbergs, Folkert W FW; Samani, Nilesh J NJ; Lehtimäki, Terho T; Gudnason, Vilmundur V; Wilson, James J; Lubitz, Steven A SA; Kääb, Stefan S; Sotoodehnia, Nona N; Caulfield, Mark J MJ; Palmer, Colin N A CNA; Sanna, Serena S; Mook-Kanamori, Dennis O DO; Deloukas, Panos P; Pedersen, Oluf O; Rotter, Jerome I JI; Dörr, Marcus M; O'Donnell, Chris J CJ; Hayward, Caroline C; Arking, Dan E DE; Kooperberg, Charles C; van der Harst, Pim P; Eijgelsheim, Mark M; Stricker, Bruno H BH; Munroe, Patricia B PB
Publication Date: 2017-06-15

Variant appearance in text: SEC31B: Ser332Ala; rs2295774
PubMed Link: 28379579
Variant Present in the following documents:
  • Main text
  • ddx113.pdf
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget
Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM
Publication Date: 2016-06-28

Variant appearance in text: SEC31B: S332A
PubMed Link: 27175599
Variant Present in the following documents:
  • oncotarget-07-39758-s006.xlsx, sheet 1
View BVdb publication page



Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Tanisawa, Kumpei K; Arai, Yasumichi Y; Hirose, Nobuyoshi N; Shimokata, Hiroshi H; Yamada, Yoshiji Y; Kawai, Hisashi H; Kojima, Motonaga M; Obuchi, Shuichi S; Hirano, Hirohiko H; Yoshida, Hideyo H; Suzuki, Hiroyuki H; Fujiwara, Yoshinori Y; Ihara, Kazushige K; Sugaya, Maki M; Arai, Tomio T; Mori, Seijiro S; Sawabe, Motoji M; Sato, Noriko N; Muramatsu, Masaaki M; Higuchi, Mitsuru M; Liu, Yao-Wen YW; Kong, Qing-Peng QP; Tanaka, Masashi M
Publication Date: 2017-03-01

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 27154906
Variant Present in the following documents:
  • glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx, sheet 2
View BVdb publication page



Mutational Profiles Reveal an Aberrant TGF-β-CEA Regulated Pathway in Colon Adenomas.

Plos One
Chen, Jian J; Raju, Gottumukkala S GS; Jogunoori, Wilma W; Menon, Vipin V; Majumdar, Avijit A; Chen, Jiun-Sheng JS; Gi, Young Jin YJ; Jeong, Yun Seong YS; Phan, Liem L; Belkin, Mitchell M; Gu, Shoujun S; Kundra, Suchin S; Mistry, Nipun A NA; Zhang, Jianping J; Su, Xiaoping X; Li, Shulin S; Lin, Sue-Hwa SH; Javle, Milind M; McMurray, John S JS; Rahlfs, Thomas F TF; Mishra, Bibhuti B; White, Jon J; Rashid, Asif A; Beauchemin, Nicole N; Weston, Brian R BR; Shafi, Mehnaz A MA; Stroehlein, John R JR; Davila, Marta M; Akbani, Rehan R; Weinstein, John N JN; Wu, Xifeng X; Mishra, Lopa L
Publication Date: 2016

Variant appearance in text: SEC31B: S332A
PubMed Link: 27100181
Variant Present in the following documents:
  • pone.0153933.s001.xlsx, sheet 5
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2295774
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SEC31B: S332A
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: SEC31B: Ser332Ala
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s002.xls, sheet 3
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: SEC31B: S332A; rs2295774
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 1
View BVdb publication page



Distribution and effects of nonsense polymorphisms in human genes.

Plos One
Yamaguchi-Kabata, Yumi Y; Shimada, Makoto K MK; Hayakawa, Yosuke Y; Minoshima, Shinsei S; Chakraborty, Ranajit R; Gojobori, Takashi T; Imanishi, Tadashi T
Publication Date: 2008

Variant appearance in text: rs2295774
PubMed Link: 18852891
Variant Present in the following documents:
View BVdb publication page