Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.S46T

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.S46T
c.136T>A
Surrounding Variants
1 paper
NM_000709.4
p.L48fs
c.142_143fs
1 paper
NM_000709.4
p.Q44*
c.130C>T
4 papers
NM_000709.4
p.L48delFs
c.143delT
1 paper
NM_000709.4
p.L48fs
c.142_143fs
1 paper
NM_000709.4
p.Q43*
c.127C>T
1 paper
NM_000709.4
p.Q42K
c.124C>A
1 paper
NM_000709.4
p.P52delFs
c.155_156delCC
3 papers
NM_000709.4
p.R40fs
c.118_119fs
7 papers
NM_000709.4
p.R40fs
c.118_119fs
8 papers
NM_000709.4
p.P39H
c.116C>A
2 papers
NM_000709.4
p.P39L
c.116C>T
1 paper
NM_000709.4
p.P38insFs
c.113_114insT
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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."