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SMARCA4 c.503G>A ;(p.G168D)
Variant ID: 19-11097012-G-A
NM_003072.3(
SMARCA4
):c.503G>A;(p.G168D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Single-cell transcriptomics links malignant T cells to the tumor immune landscape in cutaneous T cell lymphoma.
Nature Communications
Liu, Xiangjun X; Jin, Shanzhao S; Hu, Simeng S; Li, Ruoyan R; Pan, Haihao H; Liu, Yi Y; Lai, Pan P; Xu, Deshu D; Sun, Jingru J; Liu, Ziyang Z; Gao, Yumei Y; Zhao, Yifan Y; Liu, Fengjie F; Xiao, Yu Y; Li, Yingyi Y; Wen, Yujie Y; Chen, Zhuojing Z; Xu, Bufang B; Lin, Yuchieh Y; Ran, Menglong M; Li, Qianxi Q; Yang, Shuxia S; Li, Hang H; Tu, Ping P; Haniffa, Muzlifah M; Teichmann, Sarah A SA; Bai, Fan F; Wang, Yang Y
Publication Date: 2022-03-03
Variant appearance in text: SMARCA4: 503G>A; G168D
PubMed Link:
35241665
Variant Present in the following documents:
41467_2022_28799_MOESM6_ESM.xlsx, sheet 6
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: SMARCA4: 503G>A; Gly168Asp
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Nuclear actin interactome analysis links actin to KAT14 histone acetyl transferase and mRNA splicing.
Journal Of Cell Science
Viita, Tiina T; Kyheröinen, Salla S; Prajapati, Bina B; Virtanen, Jori J; Frilander, Mikko J MJ; Varjosalo, Markku M; Vartiainen, Maria K MK
Publication Date: 2019-04-17
Variant appearance in text: BRG1: G168D
PubMed Link:
30890647
Variant Present in the following documents:
Main text
View BVdb publication page