SMN1 c.350A>C ;(p.D117A)

Variant ID: 5-70238261-A-C

NM_000344.3(SMN1):c.350A>C;(p.D117A)

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:

Structural basis of proton-coupled potassium transport in the KUP family.

Nature Communications
Tascón, Igor I; Sousa, Joana S JS; Corey, Robin A RA; Mills, Deryck J DJ; Griwatz, David D; Aumüller, Nadine N; Mikusevic, Vedrana V; Stansfeld, Phillip J PJ; Vonck, Janet J; Hänelt, Inga I
Publication Date: 2020-01-31

Variant appearance in text: SMA: D117A
PubMed Link: 32005818
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_14441.pdf
View BVdb publication page