RUNX2 c.1375G>C ;(p.V459L)

Variant ID: 6-45514851-G-C

NM_001024630.3(RUNX2):c.1375G>C;(p.V459L)

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 naturally variable residue in the S1 subsite of M1 family aminopeptidases modulates catalytic properties and promotes functional specialization.

The Journal Of Biological Chemistry
Dalal, Seema S; Ragheb, Daniel R T DRT; Schubot, Florian D FD; Klemba, Michael M
Publication Date: 2013-09-06

Variant appearance in text: CCD: V459L
PubMed Link: 23897806
Variant Present in the following documents:
  • Main text
View BVdb publication page