Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.V389_S390delFs

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
2 papers
NM_000284.4
p.V389_S390delFs
c.1167_1170del4
Surrounding Variants
1 paper
NM_000284.4
p.K387Q
c.1159A>C
1 paper
NM_000284.4
p.K387*
c.1159A>T
1 paper
NM_000284.4
p.K387insFs
c.1159dupA
1 paper
NM_000284.4
p.F386_K387insFs
c.1158_1159ins16
4 papers
NM_000284.4
p.K387_S388insFs
c.1159_1162dup4
1 paper
NM_000284.4
p.S388P
c.1162T>C
1 paper
NM_000284.4
p.F386_K387ins13
c.1156_1160ins39
1 paper
NM_000284.4
p.S388fs
c.1162_1163fs
6 papers
NM_000284.4
p.S388*
c.1163C>A
4 papers
NM_000284.4
p.S388*
c.1163C>G
6 papers
NM_000284.4
p.V389fs
c.1165_1166fs
1 paper
NM_000284.4
p.F386_K387del0
c.1156_1161del6
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