Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.E306_Q308insFs

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.E306_Q308insFs
c.917_924dup8
Surrounding Variants
1 paper
NM_000284.4
p.E305insFs
c.914_915ins5
1 paper
NM_000284.4
p.E305_V310insFs
c.913_929dup17
1 paper
NM_000284.4
p.E306*
c.916G>T
7 papers
NM_000284.4
p.R304*
c.910C>T
1 paper
NM_000284.4
p.T303T
c.909A>G
2 papers
NM_000284.4
p.Q308_V310delFs
c.923_929del7
18 papers
NM_000284.4
p.R302H
c.905G>A
NM_001173456.2
p.R271H
c.812G>A
3 papers
NM_000284.4
p.R302L
c.905G>T
1 paper
NM_000284.4
p.R302fs
c.904_905fs
38 papers
NM_000284.4
p.R302C
c.904C>T
1 paper
NM_001173454.2
p.R340fs
c.1018_1019fs
1 paper
NM_000284.4
p.Q308H
c.924G>C
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