Varaico: Literature-Extracted Genetic Variants

Gene:BCKDHA
Variant:p.N404S

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.N404S
c.1211A>G
Surrounding Variants
3 papers
NM_000709.4
p.P405_L407ins1
c.1214_1219dup6
3 papers
NM_000709.4
p.L407L
c.1221A>G
1 paper
NM_000709.4
p.K402_P403ins0
c.1204_1209dup6
1 paper
NM_000709.4
p.L408R
c.1223T>G
1 paper
NM_000709.4
p.K400fs
c.1198_1199fs
2 papers
NM_000709.4
p.K400*
c.1198A>T
2 papers
NM_000709.4
p.K400delFs
c.1198delA
1 paper
NM_000709.4
p.F409C
c.1226T>G
2 papers
NM_000709.4
p.F409_S410del1
c.1227_1229delCTC
1 paper
NM_000709.4
p.E398*
c.1192G>T
1 paper
NM_000709.4
p.D411fs
c.1231_1232fs
3 papers
NM_000709.4
p.V412M
c.1234G>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."