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
1 paper
NM_003001.5
p.R7Splc
c.20+3G>A
Surrounding Variants
4 papers
NM_003001.5
p.R7Splc
c.20+2T>G
3 papers
NM_003001.5
p.R7Splc
c.20+1G>T
1 paper
NM_003001.5
p.R7Splc
c.20+6T>G
1 paper
NM_003001.5
p.R7G
c.19A>G
1 paper
NM_003001.5
p.R7*
c.19A>T
1 paper
NM_003001.5
p.R7Splc
c.20+7T>G
2 papers
NM_003001.5
p.L6insFs
c.17_18dupTG
1 paper
NM_003001.5
p.L6V
c.16C>G
1 paper
NM_003001.5
p.R7Splc
c.20+10G>A
1 paper
NM_003001.5
p.L5L
c.15G>A
1 paper
NM_003001.5
p.L5F
c.15G>C
1 paper
NM_003001.5
p.L5F
c.15G>T
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