Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.R315Q

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
1 paper
NM_000709.4
p.R315Q
c.944G>A
Surrounding Variants
1 paper
NM_000709.4
p.R315W
c.943C>T
2 papers
NM_000709.4
p.R316_A319delFs
c.947_956del10
2 papers
NM_000709.4
p.R316fs
c.946_947fs
1 paper
NM_000709.4
p.R314G
c.940C>G
9 papers
NM_000709.4
p.R314*
c.940C>T
1 paper
NM_000709.4
p.A313D
c.938C>A
1 paper
NM_000709.4
p.A313delFs
c.937delG
1 paper
NM_000709.4
p.V318E
c.953T>A
1 paper
NM_000709.4
p.A319P
c.955G>C
4 papers
NM_000709.4
p.T310R
c.929C>G
1 paper
NM_000709.4
p.Q322K
c.964C>A
1 paper
NM_000709.4
p.Q322*
c.964C>T
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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."