KDM5A c.4040A>T ;(p.E1347V)

Variant ID: 12-416146-T-A

NM_001042603.1(KDM5A):c.4040A>T;(p.E1347V)

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:

Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators.

Journal Of Molecular Biology
Deák, Gauri G; Cook, Atlanta G AG
Publication Date: 2022-05-15

Variant appearance in text: rs1348797792
PubMed Link: 35257783
Variant Present in the following documents:
  • mmc3.xlsx, sheet 12
View BVdb publication page