HR c.1123C>A ;(p.H375N)

Variant ID: 8-21984832-G-T

NM_005144.4(HR):c.1123C>A;(p.H375N)

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:

Catalysis of transthiolacylation in the active centers of dihydrolipoamide acyltransacetylase components of 2-oxo acid dehydrogenase complexes.

Febs Open Bio
Chakraborty, Joydeep J; Nemeria, Natalia S NS; Farinas, Edgardo E; Jordan, Frank F
Publication Date: 2018-06

Variant appearance in text: HR: His375Asn
PubMed Link: 29928569
Variant Present in the following documents:
  • Main text
  • FEB4-8-880.pdf
View BVdb publication page