Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.I113insFs

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
2 papers
NM_003001.5
p.I113insFs
c.337_338insT
Surrounding Variants
1 paper
NM_003001.5
p.I113_F118insFs
c.338_353dup16
1 paper
NM_003001.5
p.I113V
c.337A>G
1 paper
NM_003001.5
p.I113_L120delFs
c.339_360del22
1 paper
NM_003001.5
p.I113_H114delFs
c.337_340del4
1 paper
NM_003001.5
p.I113I
c.339C>T
1 paper
NM_003001.5
p.H114delFs
c.341_342delAC
1 paper
NM_003001.5
p.L112Q
c.335T>A
1 paper
NM_003001.5
p.L112insFs
c.336dupG
1 paper
NM_003001.5
p.H114Y
c.340C>T
6 papers
NM_003001.5
p.H114R
c.341A>G
2 papers
NM_003001.5
p.H114L
c.341A>T
1 paper
NM_003001.5
p.H114_A116delFs
c.342_346del5
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