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SRY c.395G>A ;(p.R132H)
Variant ID: Y-2655250-C-T
NM_003140.2(
SRY
):c.395G>A;(p.R132H)
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:
Crosstalk between SOX Genes and Long Non-Coding RNAs in Glioblastoma.
International Journal Of Molecular Sciences
Stevanovic, Milena M; Kovacevic-Grujicic, Natasa N; Petrovic, Isidora I; Drakulic, Danijela D; Milivojevic, Milena M; Mojsin, Marija M
Publication Date: 2023-03-28
Variant appearance in text: SRY: R132H
PubMed Link:
37047365
Variant Present in the following documents:
Main text
ijms-24-06392.pdf
View BVdb publication page
SOX11 is a sensitive and specific marker for pulmonary high-grade neuroendocrine tumors.
Diagnostic Pathology
Yu, Lu L; Dong, Yuting Y; Xue, Jin J; Xu, Sanpeng S; Wang, Guoping G; Kuang, Dong D; Duan, Yaqi Y
Publication Date: 2022-01-07
Variant appearance in text: SRY: R132H
PubMed Link:
34996493
Variant Present in the following documents:
13000_2021_Article_1186.pdf
View BVdb publication page
A point mutation in translation initiation factor eIF2B leads to function--and time-specific changes in brain gene expression.
Plos One
Marom, Liraz L; Ulitsky, Igor I; Cabilly, Yuval Y; Shamir, Ron R; Elroy-Stein, Orna O
Publication Date: 2011
Variant appearance in text: SRY: R132H
PubMed Link:
22073122
Variant Present in the following documents:
Main text
pone.0026992.pdf
View BVdb publication page