Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.W383*

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
4 papers
NM_000284.4
p.W383*
c.1148G>A
Surrounding Variants
4 papers
NM_000284.4
p.W383*
c.1149G>A
1 paper
NM_000284.4
p.W383fs
c.1147_1148fs
6 papers
NM_000284.4
p.W383fs
c.1147_1148fs
1 paper
NM_000284.4
p.I384fs
c.1150_1151fs
1 paper
NM_000284.4
p.K385_S388delFs
c.1154_1164del11
1 paper
NM_000284.4
p.W383del1
c.1147_1148delTGG
1 paper
NM_000284.4
p.Q382insFs
c.1145dupA
1 paper
NM_000284.4
p.Q382_K387insFs
c.1146_1159dup14
1 paper
NM_000284.4
p.Q382fs
c.1144_1145fs
1 paper
NM_000284.4
p.Q382*
c.1144C>T
1 paper
NM_000284.4
p.F386_K387del0
c.1156_1161del6
1 paper
NM_000284.4
p.Q382_W383delFs
c.1145_1149del5
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