Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.R7Splc

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.R7Splc
c.21-2A>G
Surrounding Variants
1 paper
NM_003001.5
p.R7Splc
c.21-2A>C
2 papers
NM_003001.5
p.R7delFs
c.21delA
1 paper
NM_003001.5
p.H8N
c.22C>A
1 paper
NM_003001.5
p.H8insFs
c.23dupA
1 paper
NM_003001.5
p.H8Y
c.22C>T
1 paper
NM_003001.5
p.H8fs
c.22_23fs
1 paper
NM_003001.5
p.V9_C13del5
c.25_38del15
1 paper
NM_003001.5
p.V9_S19del11
c.25_56del33
6 papers
NM_003001.5
p.V9I
c.25G>A
1 paper
NM_003001.5
p.V9F
c.25G>T
2 papers
NM_003001.5
p.V9D
c.26T>A
1 paper
NM_003001.5
p.G10_R11del0
c.28_33del6
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