RUNX2 c.553_555delinsTTT ;(p.L185F)

Variant ID: 6-45399729-CTG-TTT

NM_001024630.3(RUNX2):c.553_555delinsTTT;(p.L185F)

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:

Transmembrane Domain 3 (TM3) Governs Orai1 and Orai3 Pore Opening in an Isoform-Specific Manner.

Frontiers In Cell And Developmental Biology
Tiffner, Adéla A; Maltan, Lena L; Fahrner, Marc M; Sallinger, Matthias M; Weiß, Sarah S; Grabmayr, Herwig H; Höglinger, Carmen C; Derler, Isabella I
Publication Date: 2021

Variant appearance in text: CCD: L185F
PubMed Link: 33644073
Variant Present in the following documents:
  • Main text
  • fcell-09-635705.pdf
View BVdb publication page