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.




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