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SH2D3C c.1727G>A ;(p.R576H)
Variant ID: 9-130506916-C-T
NM_170600.2(
SH2D3C
):c.1727G>A;(p.R576H)
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:
Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.
Journal For Immunotherapy Of Cancer
Dai, Jie J; Bai, Xue X; Gao, Xuan X; Tang, Lirui L; Chen, Yu Y; Sun, Linzi L; Wei, Xiaoting X; Li, Caili C; Qi, Zhonghui Z; Kong, Yan Y; Cui, Chuanliang C; Chi, Zhihong Z; Sheng, Xinan X; Xu, Zelong Z; Lian, Bin B; Li, Siming S; Yan, Xieqiao X; Tang, Bixia B; Zhou, Li L; Wang, Xuan X; Xia, Xuefeng X; Guo, Jun J; Mao, Lili L; Si, Lu L
Publication Date: 2023-01
Variant appearance in text: SH2D3C: Arg576His
PubMed Link:
36593066
Variant Present in the following documents:
jitc-2022-005937supp007.xls, sheet 1
View BVdb publication page
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Immunity & Ageing : I & A
Villa, Francesco F; MaciÄ…g, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014
Variant appearance in text: rs141136835
PubMed Link:
25469153
Variant Present in the following documents:
12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page