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RUNX2 c.1375_1377delinsTTT ;(p.V459F)
Variant ID: 6-45514851-GTG-TTT
NM_001024630.3(
RUNX2
):c.1375_1377delinsTTT;(p.V459F)
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: V459F
PubMed Link:
23897806
Variant Present in the following documents:
Main text
View BVdb publication page