Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.M210T

PDHA1

367 papers

RefSeq Summary

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link...

Pfam Domains

E1_dhaa 66–362UCSCDehydrogenase E1 component

Gene Aliases

HGNC Name

pyruvate dehydrogenase E1 subunit alpha 1

HGNC Alias Symbol

E1alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000284.4
p.M210T
c.629T>C
Surrounding Variants
1 paper
NM_000284.4
p.M210L
c.628A>C
8 papers
NM_000284.4
p.M210V
c.628A>G
1 paper
NM_000284.4
p.A211T
c.631G>A
2 papers
NM_000284.4
p.N209S
c.626A>G
1 paper
NM_000284.4
p.A211V
c.632C>T
1 paper
NM_000284.4
p.Y208*
c.624C>G
1 paper
NM_000284.4
p.L213S
c.638T>C
1 paper
NM_000284.4
p.A207P
c.619G>C
3 papers
NM_000284.4
p.A207delFs
c.620delC
3 papers
NM_000284.4
p.W214R
c.640T>A
4 papers
NM_000284.4
p.W214R
c.640T>C
2 papers
NM_000284.4
p.W214G
c.640T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."