SMN1 c.236A>G ;(p.K79R)

Variant ID: 5-70237298-A-G

NM_000344.3(SMN1):c.236A>G;(p.K79R)

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:

Stress-dependent phosphorylation of myocardin-related transcription factor A (MRTF-A) by the p38(MAPK)/MK2 axis.

Scientific Reports
Ronkina, Natalia N; Lafera, Juri J; Kotlyarov, Alexey A; Gaestel, Matthias M
Publication Date: 2016-08-05

Variant appearance in text: SMA: K79R
PubMed Link: 27492266
Variant Present in the following documents:
  • Main text
  • srep31219.pdf
View BVdb publication page