COL3A1 c.2977G>T ;(p.G993C)

Variant ID: 2-189870121-G-T

NM_000090.3(COL3A1):c.2977G>T;(p.G993C)

This variant was identified in 3 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: COL3A1: 2977G>T; Gly993Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report.

Bmc Pulmonary Medicine
Wan, Tingting T; Ye, Jinyan J; Wu, Peiliang P; Cheng, Mengshi M; Jiang, Baihong B; Wang, Hailong H; Li, Jianmin J; Ma, Jun J; Wang, Liangxing L; Huang, Xiaoying X
Publication Date: 2020-05-29

Variant appearance in text: COL3A1: Gly993Cys
PubMed Link: 32471395
Variant Present in the following documents:
  • Main text
  • 12890_2020_Article_1164.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: COL3A1: G993C
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page