Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.V58del1

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.V58del1
c.172_173delGTG
Surrounding Variants
1 paper
NM_004168.4
p.V58fs
c.172_173fs
1 paper
NM_004168.4
p.V58delFs
c.173delT
1 paper
NM_004168.4
p.V57insFs
c.171dupA
1 paper
NM_004168.4
p.V57I
c.169G>A
1 paper
NM_004168.4
p.V57L
c.169G>C
1 paper
NM_004168.4
p.V57L
c.169G>T
1 paper
NM_004168.4
p.V58A
c.173T>C
1 paper
NM_004168.4
p.V58G
c.173T>G
1 paper
NM_004168.4
p.D59insFs
c.175dupG
1 paper
NM_004168.4
p.V57delFs
c.169delG
1 paper
NM_004168.4
p.V58_D59delins
c.174_175delinsTT
1 paper
NM_004168.4
p.P56R
c.167C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."