CALR c.149T>A ;(p.V50D)

Variant ID: 19-13050005-T-A

NM_004343.3(CALR):c.149T>A;(p.V50D)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Anti-Ro52 autoantibodies from patients with Sjögren's syndrome inhibit the Ro52 E3 ligase activity by blocking the E3/E2 interface.

The Journal Of Biological Chemistry
Espinosa, Alexander A; Hennig, Janosch J; Ambrosi, Aurélie A; Anandapadmanaban, Madhanagopal M; Abelius, Martina Sandberg MS; Sheng, Yi Y; Nyberg, Filippa F; Arrowsmith, Cheryl H CH; Sunnerhagen, Maria M; Wahren-Herlenius, Marie M
Publication Date: 2011-10-21

Variant appearance in text: SSA: V50D
PubMed Link: 21862588
Variant Present in the following documents:
  • Main text
View BVdb publication page