Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.F386_K387del0

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.F386_K387del0
c.1156_1161del6
Surrounding Variants
1 paper
NM_000284.4
p.I384fs
c.1150_1151fs
1 paper
NM_000284.4
p.K385_S388delFs
c.1154_1164del11
4 papers
NM_000284.4
p.W383*
c.1149G>A
4 papers
NM_000284.4
p.W383*
c.1148G>A
1 paper
NM_000284.4
p.F386_K387ins13
c.1156_1160ins39
1 paper
NM_000284.4
p.W383fs
c.1147_1148fs
4 papers
NM_000284.4
p.K387_S388insFs
c.1159_1162dup4
6 papers
NM_000284.4
p.W383fs
c.1147_1148fs
1 paper
NM_000284.4
p.K387insFs
c.1159dupA
1 paper
NM_000284.4
p.F386_K387insFs
c.1158_1159ins16
1 paper
NM_000284.4
p.K387Q
c.1159A>C
1 paper
NM_000284.4
p.K387*
c.1159A>T
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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."