Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.V67delFs

SDHA

1,054 papers

RefSeq Summary

This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is lo...

Pfam Domains

FAD_binding_2aa 63–457UCSCFAD binding domain
Succ_DH_flav_Caa 512–664UCSCFumarate reductase flavoprotein C-term

Gene Aliases

HGNC Name

succinate dehydrogenase complex flavoprotein subunit A

HGNC Previous Symbol

SDH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004168.4
p.V67delFs
c.199delG
Surrounding Variants
1 paper
NM_004168.4
p.V66L
c.196G>T
1 paper
NM_004168.4
p.V67I
c.199G>A
1 paper
NM_004168.4
p.V65V
c.195G>T
1 paper
NM_004168.4
p.V65E
c.194T>A
1 paper
NM_004168.4
p.V65A
c.194T>C
2 papers
NM_004168.4
p.G68insFs
c.202dupG
1 paper
NM_004168.4
p.G68C
c.202G>T
1 paper
NM_004168.4
p.A64E
c.191C>A
1 paper
NM_004168.4
p.A64V
c.191C>T
2 papers
NM_004168.4
p.G68D
c.203G>A
1 paper
NM_004168.4
p.G68V
c.203G>T
4 papers
NM_004168.4
p.G68G
c.204C>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."