Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.E37insFs

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
1 paper
NM_003001.5
p.E37insFs
c.110dupA
Surrounding Variants
2 papers
NM_003001.5
p.E37K
c.109G>A
3 papers
NM_003001.5
p.E36D
c.108A>T
1 paper
NM_003001.5
p.E37_M38insFs
c.111_112dupGA
1 paper
NM_003001.5
p.M38delFs
c.112delA
1 paper
NM_003001.5
p.M38insFs
c.112_113ins2
1 paper
NM_003001.5
p.M38insFs
c.113dupT
1 paper
NM_003001.5
p.M38V
c.112A>G
1 paper
NM_003001.5
p.E36K
c.106G>A
2 papers
NM_003001.5
p.E36*
c.106G>T
1 paper
NM_003001.5
p.E36delFs
c.107_108delAA
1 paper
NM_003001.5
p.E36_E37del2
c.106_110del6
1 paper
NM_003001.5
p.M38I
c.114G>A
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