Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.R159Q

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
4 papers
NM_000709.4
p.R159Q
c.476G>A
Surrounding Variants
4 papers
NM_000709.4
p.R159W
c.475C>T
4 papers
NM_000709.4
p.Q157P
c.470A>C
1 paper
NM_000709.4
p.G162D
c.485G>A
1 paper
NM_000709.4
p.F155_G156del2
c.463_467del6
2 papers
NM_000709.4
p.D152N
c.454G>A
14 papers
NM_000709.4
p.T151M
c.452C>T
1 paper
NM_000709.4
p.A147A
c.441C>A
1 paper
NM_000709.4
p.A146V
c.437C>T
1 paper
NM_000709.4
p.A146Fs
c.436delinsCAFs
2 papers
NM_000709.4
p.S144I
c.431G>T
1 paper
NM_000709.4
p.T140A
c.418A>G
1 paper
NM_000709.4
p.G139D
c.416G>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."