SI c.5234T>G ;(p.F1745C)

Variant ID: 3-164700803-A-C

NM_001041.3(SI):c.5234T>G;(p.F1745C)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24

Variant appearance in text: SI: 5234T>G; Phe1745Cys
PubMed Link: 36693175
Variant Present in the following documents:
  • ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3
View BVdb publication page



The genetics of monogenic intestinal epithelial disorders.

Human Genetics
Babcock, Stephen J SJ; Flores-Marin, David D; Thiagarajah, Jay R JR
Publication Date: 2022-11-23

Variant appearance in text: SI: Phe1745Cys
PubMed Link: 36422736
Variant Present in the following documents:
  • Main text
  • 439_2022_Article_2501.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: SI: F1745C; rs79717168
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China.

Frontiers In Pediatrics
Zhou, Jianli J; Zhao, Yuzhen Y; Qian, Xia X; Cheng, Yongwei Y; Cai, Huabo H; Chen, Moxian M; Zhou, Shaoming S
Publication Date: 2021

Variant appearance in text: SI: 5234T>G; Phe1745Cys
PubMed Link: 34926337
Variant Present in the following documents:
  • Main text
  • fped-09-731716.pdf
View BVdb publication page



Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female.

Cureus
Chiruvella, Varsha V; Cheema, Ayesha A; Arshad, Hafiz Muhammad Sharjeel HMS; Chan, Jacqueline T JT; Yap, John Erikson L JEL
Publication Date: 2021-04-07

Variant appearance in text: SI: F1745C
PubMed Link: 33972906
Variant Present in the following documents:
  • Main text
View BVdb publication page



NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.

Diagnostics (Basel, Switzerland)
Esposito, Maria Valeria MV; Comegna, Marika M; Cernera, Gustavo G; Gelzo, Monica M; Paparo, Lorella L; Berni Canani, Roberto R; Castaldo, Giuseppe G
Publication Date: 2021-02-08

Variant appearance in text: SI: 5234T>G; F1745C
PubMed Link: 33567694
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00262.pdf
View BVdb publication page



Hypomorphic SI genetic variants are associated with childhood chronic loose stools.

Plos One
Chumpitazi, Bruno P BP; Lewis, Jeffery J; Cooper, Derick D; D'Amato, Mauro M; Lim, Joel J; Gupta, Sandeep S; Miranda, Adrian A; Terry, Natalie N; Mehta, Devendra D; Scheimann, Ann A; O'Gorman, Molly M; Tipnis, Neelesh N; Davies, Yinka Y; Friedlander, Joel J; Smith, Heather H; Punati, Jaya J; Khlevner, Julie J; Setty, Mala M; Di Lorenzo, Carlo C
Publication Date: 2020

Variant appearance in text: SI: F1745C
PubMed Link: 32433684
Variant Present in the following documents:
  • Main text
  • pone.0231891.pdf
View BVdb publication page



Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.

Nutrients
Husein, Diab M DM; Wanes, Dalanda D; Marten, Lara M LM; Zimmer, Klaus-Peter KP; Naim, Hassan Y HY
Publication Date: 2019-09-25

Variant appearance in text: SI: F1745C; rs79717168
PubMed Link: 31557950
Variant Present in the following documents:
  • Main text
  • nutrients-11-02290.pdf
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: SI: 5234T>G; F1745C; rs79717168
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.

Gut
Henström, Maria M; Diekmann, Lena L; Bonfiglio, Ferdinando F; Hadizadeh, Fatemeh F; Kuech, Eva-Maria EM; von Köckritz-Blickwede, Maren M; Thingholm, Louise B LB; Zheng, Tenghao T; Assadi, Ghazaleh G; Dierks, Claudia C; Heine, Martin M; Philipp, Ute U; Distl, Ottmar O; Money, Mary E ME; Belheouane, Meriem M; Heinsen, Femke-Anouska FA; Rafter, Joseph J; Nardone, Gerardo G; Cuomo, Rosario R; Usai-Satta, Paolo P; Galeazzi, Francesca F; Neri, Matteo M; Walter, Susanna S; Simrén, Magnus M; Karling, Pontus P; Ohlsson, Bodil B; Schmidt, Peter T PT; Lindberg, Greger G; Dlugosz, Aldona A; Agreus, Lars L; Andreasson, Anna A; Mayer, Emeran E; Baines, John F JF; Engstrand, Lars L; Portincasa, Piero P; Bellini, Massimo M; Stanghellini, Vincenzo V; Barbara, Giovanni G; Chang, Lin L; Camilleri, Michael M; Franke, Andre A; Naim, Hassan Y HY; D'Amato, Mauro M
Publication Date: 2018-02

Variant appearance in text: SI: Phe1745Cys
PubMed Link: 27872184
Variant Present in the following documents:
  • Main text
  • gutjnl-2016-312456.pdf
View BVdb publication page



Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.

Journal Of Pediatric Gastroenterology And Nutrition
Haberman, Yael Y; Di Segni, Ayelet A; Loberman-Nachum, Nurit N; Barel, Ortal O; Kunik, Vered V; Eyal, Eran E; Kol, Nitzan N; Hout-Siloni, Goni G; Kochavi, Brigitte B; Avivi, Camila C; Schvimer, Michael M; Rechavi, Gideon G; Anikster, Yair Y; Barshack, Iris I; Weiss, Batia B
Publication Date: 2017-05

Variant appearance in text: SI: F1745C
PubMed Link: 27749612
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of the Biphasic (13)C-Sucrose/Glucose Breath Test to Assess Sucrose Maldigestion in Adults with Functional Bowel Disorders.

Biomed Research International
Opekun, Antone R AR; Balesh, Albert M AM; Shelby, Harold T HT
Publication Date: 2016

Variant appearance in text: SI: 5234T>G
PubMed Link: 27579322
Variant Present in the following documents:
  • Main text
  • BMRI2016-7952891.pdf
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: SI: F1745C
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



The multiple roles of sucrase-isomaltase in the intestinal physiology.

Molecular And Cellular Pediatrics
Gericke, Birthe B; Amiri, Mahdi M; Naim, Hassan Y HY
Publication Date: 2016-12

Variant appearance in text: SI: Phe1745Cys
PubMed Link: 26812950
Variant Present in the following documents:
  • Main text
  • 40348_2016_Article_33.pdf
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: rs79717168
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: SI: F1745C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page