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PC c.1030_1032delinsTTT ;(p.L344F)
Variant ID: 11-66633811-CAG-AAA
NM_001040716.1(
PC
):c.1030_1032delinsTTT;(p.L344F)
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:
Structural and conformational changes induced by missense variants in the zinc finger domains of GATA3 involved in breast cancer.
Rsc Advances
Kumar, Rakesh R; Kumar, Rahul R; Tanwar, Pranay P; Deo, S V S SVS; Mathur, Sandeep S; Agarwal, Usha U; Hussain, Showket S
Publication Date: 2020-10-27
Variant appearance in text: PC: L344F
PubMed Link:
35515377
Variant Present in the following documents:
RA-010-D0RA07786K-s001.pdf
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: PC: L344F
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page