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RAD52 c.348+243T>C
Variant ID: 12-1038742-A-G
NM_134424.2(
RAD52
):c.348+243T>C
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.
Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29
Variant appearance in text: rs4766377
PubMed Link:
36991000
Variant Present in the following documents:
41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page
Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.
Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06
Variant appearance in text: RAD52: 348+243T>C; rs4766377
PubMed Link:
33503336
Variant Present in the following documents:
CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page
RAD52 variants influence NSCLC risk in the Chinese population in a high altitude area.
Therapeutic Advances In Respiratory Disease
Li, Miao M; Chen, Rong R; Ji, Baoyan B; Fan, Chunmei C; Wang, Guanying G; Yue, Chenli C; Jin, Guoquan G
Publication Date: 2020
Variant appearance in text: rs4766377
PubMed Link:
32401173
Variant Present in the following documents:
Main text
10.1177_1753466620918192.pdf
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: RAD52: 348+243T>C; rs4766377
PubMed Link:
30319441
Variant Present in the following documents:
Table_7.xlsx, sheet 1
View BVdb publication page
Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.
Plos One
Offer, Steven M SM; Pan-Hammarström, Qiang Q; Hammarström, Lennart L; Harris, Reuben S RS
Publication Date: 2010-08-18
Variant appearance in text: rs4766377
PubMed Link:
20805886
Variant Present in the following documents:
pone.0012260.s004.pdf
View BVdb publication page