SMN1 c.380A>T ;(p.Y127F)

Variant ID: 5-70238291-A-T

NM_000344.3(SMN1):c.380A>T;(p.Y127F)

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:

Towards an understanding of regulating Cajal body activity by protein modification.

Rna Biology
Hebert, Michael D MD; Poole, Aaron R AR
Publication Date: 2017-06-03

Variant appearance in text: SMA: Y127F
PubMed Link: 27819531
Variant Present in the following documents:
  • Main text
View BVdb publication page