Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.A66V

SDHC

504 papers

RefSeq Summary

This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic r...

Pfam Domains

Sdh_cytaa 10–129UCSCSuccinate dehydrogenase/Fumarate reductase transmembrane subunit

Gene Aliases

HGNC Name

succinate dehydrogenase complex subunit C

HGNC Previous Symbol

PGL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003001.5
p.A66V
c.197C>T
Surrounding Variants
1 paper
NM_003001.5
p.M67delFs
c.199delA
1 paper
NM_003001.5
p.M65I
c.195G>T
1 paper
NM_003001.5
p.M65K
c.194T>A
1 paper
NM_003001.5
p.M67K
c.200T>A
1 paper
NM_003001.5
p.M65T
c.194T>C
1 paper
NM_003001.5
p.M67T
c.200T>C
1 paper
NM_003001.5
p.M65V
c.193A>G
3 papers
NM_003001.5
p.S68insFs
c.202dupT
1 paper
NM_003001.5
p.P64P
c.192C>A
1 paper
NM_003001.5
p.S68A
c.202T>G
1 paper
NM_003001.5
p.S68insFs
c.204dupC
1 paper
NM_003001.5
p.S68fs
c.202_203fs
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