Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.G180R

BCKDHA

228 papers

RefSeq Summary

The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acid...

Pfam Domains

E1_dhaa 106–406UCSCDehydrogenase E1 component

Gene Aliases

HGNC Name

branched chain keto acid dehydrogenase E1 subunit alpha

HGNC Previous Symbol

OVD1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000709.4
p.G180R
c.538G>C
Surrounding Variants
3 papers
NM_000709.4
p.G180D
c.539G>A
1 paper
NM_000709.4
p.Q177*
c.529C>T
1 paper
NM_000709.4
p.S183N
c.548G>A
1 paper
NM_000709.4
p.A176V
c.527C>T
1 paper
NM_000709.4
p.L185W
c.554T>G
1 paper
NM_000709.4
p.L185_K187Fs
c.554_559delinsTGTGFs
6 papers
NM_000709.4
p.G188W
c.562G>T
6 papers
NM_000709.4
p.R189C
c.565C>T
3 papers
NM_000709.4
p.L171delFs
c.512delT
4 papers
NM_000709.4
p.L171fs
c.511_512fs
1 paper
NM_000709.4
p.R189P
c.566G>C
1 paper
NM_000709.4
p.Q190K
c.568C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."