Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.P110S

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.P110S
c.328C>T
Surrounding Variants
1 paper
NM_003001.5
p.P110insFs
c.328_329insG
1 paper
NM_003001.5
p.P110_A111insFs
c.330_333dup4
3 papers
NM_003001.5
p.P110L
c.329C>T
1 paper
NM_003001.5
p.P110_A111ins9
c.330_331ins27
1 paper
NM_003001.5
p.A111delFs
c.331_332delGC
1 paper
NM_003001.5
p.G109V
c.326G>T
1 paper
NM_003001.5
p.G109R
c.325G>A
1 paper
NM_003001.5
p.A111T
c.331G>A
1 paper
NM_003001.5
p.G109R
c.325G>C
1 paper
NM_003001.5
p.L112_I113delFs
c.334_337del4
1 paper
NM_003001.5
p.G109_L112delFs
c.325_335del11
1 paper
NM_003001.5
p.L112Q
c.335T>A
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