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NSF c.712_714delinsATG ;(p.R238M)
Variant ID: 17-44720592-CGA-ATG
NM_006178.3(
NSF
):c.712_714delinsATG;(p.R238M)
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:
The second coordination sphere of FIH controls hydroxylation.
Biochemistry
Saban, Evren E; Chen, Yuan-Han YH; Hangasky, John A JA; Taabazuing, Cornelius Y CY; Holmes, Breanne E BE; Knapp, Michael J MJ
Publication Date: 2011-05-31
Variant appearance in text: NSF: R238M
PubMed Link:
21456582
Variant Present in the following documents:
Main text
View BVdb publication page