ATP2B2 c.1468A>T ;(p.M490L)

Variant ID: 3-10413684-T-A

NM_001001331.2(ATP2B2):c.1468A>T;(p.M490L)

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:

A helix-breaking mutation in the epithelial Ca(2+) channel TRPV5 leads to reduced Ca(2+)-dependent inactivation.

Cell Calcium
Lee, Kyu Pil KP; Nair, Anil V AV; Grimm, Christian C; van Zeeland, Femke F; Heller, Stefan S; Bindels, René J M RJ; Hoenderop, Joost G J JG
Publication Date: 2010-11

Variant appearance in text: PMCA2: M490L
PubMed Link: 21035851
Variant Present in the following documents:
  • Main text
View BVdb publication page