SCN1A c.965G>T ;(p.R322I)

Variant ID: 2-166905459-C-A

NM_001165963.1(SCN1A):c.965G>T;(p.R322I)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: SCN1A: 965G>T; Arg322Ile
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.

Experimental Hematology & Oncology
Li, Shan-Shan SS; Zhai, Xiao-Hui XH; Liu, Hai-Ling HL; Liu, Ting-Zhi TZ; Cao, Tai-Yuan TY; Chen, Dong-Mei DM; Xiao, Le-Xin LX; Gan, Xiao-Qin XQ; Cheng, Ke K; Hong, Wan-Jia WJ; Huang, Yan Y; Lian, Yi-Fan YF; Xiao, Jian J
Publication Date: 2022-10-15

Variant appearance in text: SCN1A: 965G>T; Arg322Ile; rs121917928
PubMed Link: 36243813
Variant Present in the following documents:
  • 40164_2022_325_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies.

Cells
Zayat, Valery V; Szlendak, Roza R; Hoffman-Zacharska, Dorota D
Publication Date: 2022-10-04

Variant appearance in text: Nav1.1: Arg322Ile
PubMed Link: 36231081
Variant Present in the following documents:
  • Main text
View BVdb publication page



High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Epilepsia Open
Kwong, Anna Ka-Yee AK; Wong, Virginia Chun-Nei VC; Wong, Sheila Suet-Na SS; Chu, Vanessa Loi-Yan VL; Koene, Saskia S; Smeitink, Jan J; Fung, Cheuk-Wing CW
Publication Date: 2021-12

Variant appearance in text: SCN1A: 965G>T; Arg322Ile
PubMed Link: 34379890
Variant Present in the following documents:
  • Main text
  • EPI4-6-685.pdf
View BVdb publication page



High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Epilepsia Open
Kwong, Anna Ka-Yee AK; Wong, Virginia Chun-Nei VC; Wong, Sheila Suet-Na SS; Chu, Vanessa Loi-Yan VL; Koene, Saskia S; Smeitink, Jan J; Fung, Cheuk-Wing CW
Publication Date: 2021-12

Variant appearance in text: SCN1A: 965G>T; Arg322Ile
PubMed Link: 34379890
Variant Present in the following documents:
  • Main text
  • EPI4-6-685.pdf
View BVdb publication page



Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes.

Stem Cell Reports
Frasier, Chad R CR; Zhang, Helen H; Offord, James J; Dang, Louis T LT; Auerbach, David S DS; Shi, Huilin H; Chen, Chunling C; Goldman, Alica M AM; Eckhardt, L Lee LL; Bezzerides, Vassilios J VJ; Parent, Jack M JM; Isom, Lori L LL
Publication Date: 2018-09-11

Variant appearance in text: SCN1A: R322I
PubMed Link: 30146492
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: Nav1.1: R322I
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
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: SMEI: R322I; rs121917928
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: rs121917928
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
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: SCN1A: R322I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: rs121917928
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page