Bibliome.ai browser hg19
Search
About
Stats
FAQ
COL2A1 c.1132G>A ;(p.G378S)
Variant ID: 12-48381483-C-T
NM_001844.4(
COL2A1
):c.1132G>A;(p.G378S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities: Case Report and Review of the Literature.
Children (Basel, Switzerland)
Christopoulos, Panagiotis P; Eleftheriades, Anna A; Paltoglou, George G; Paschalidou, Eleni E; Kalampokas, Emmanouil E; Florentin, Lina L; Billi, Chrysanthi C; Eleftheriades, Makarios M
Publication Date: 2022-08-14
Variant appearance in text: COL2A1: 1132G>A
PubMed Link:
36010119
Variant Present in the following documents:
Main text
children-09-01229.pdf
View BVdb publication page
Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.
Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2022-02
Variant appearance in text: COL2A1: 1132G>A; G378S
PubMed Link:
34255132
Variant Present in the following documents:
262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page
Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.
Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2021-07-13
Variant appearance in text: COL2A1: 1132G>A; G378S
PubMed Link:
34255132
Variant Present in the following documents:
262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page