SUN1 c.738G>T ;(p.W246C)

Variant ID: 7-891100-G-T

NM_001130965.2(SUN1):c.738G>T;(p.W246C)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics
Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N
Publication Date: 2023-01-26

Variant appearance in text: rs142011077
PubMed Link: 36703207
Variant Present in the following documents:
  • 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1
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: SUN1: W246C
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11

Variant appearance in text: SUN1: 738G>T; Trp246Cys
PubMed Link: 36053979
Variant Present in the following documents:
  • CGE-102-414-s009.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: rs142011077
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: SUN1: 738G>T; Trp246Cys; rs142011077
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: rs142011077
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
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: SUN1: W246C
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: SUN1: W246C; rs142011077
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: SUN1: W246C; rs142011077
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 4
  • 41467_2017_2688_MOESM20_ESM.xlsx, sheet 3
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: rs142011077
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Human Molecular Genetics
Pagnamenta, Alistair T AT; Howard, Malcolm F MF; Wisniewski, Eva E; Popitsch, Niko N; Knight, Samantha J L SJ; Keays, David A DA; Quaghebeur, Gerardine G; Cox, Helen H; Cox, Phillip P; Balla, Tamas T; Taylor, Jenny C JC; Kini, Usha U
Publication Date: 2015-07-01

Variant appearance in text: SUN1: 738G>T; W246C
PubMed Link: 25855803
Variant Present in the following documents:
  • supp_ddv117_ddv117supp_table2.xls, 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: SUN1: Trp246Cys
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s001.xls, sheet 3
  • pone.0109576.s002.xls, sheet 3
View BVdb publication page



Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.

Plos Genetics
Meinke, Peter P; Mattioli, Elisabetta E; Haque, Farhana F; Antoku, Susumu S; Columbaro, Marta M; Straatman, Kees R KR; Worman, Howard J HJ; Gundersen, Gregg G GG; Lattanzi, Giovanna G; Wehnert, Manfred M; Shackleton, Sue S
Publication Date: 2014-09

Variant appearance in text: rs142011077
PubMed Link: 25210889
Variant Present in the following documents:
  • pgen.1004605.s008.pdf
View BVdb publication page