Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.A27D

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.A27D
c.80C>A
Surrounding Variants
1 paper
NM_003001.5
p.V28_T33del6
c.82_98del18
1 paper
NM_003001.5
p.V28F
c.82G>T
1 paper
NM_003001.5
p.A27delFs
c.79delG
5 papers
NM_003001.5
p.N26Splc
c.78-1G>A
3 papers
NM_003001.5
p.N26Splc
c.78-1G>T
1 paper
NM_003001.5
p.N26Splc
c.78-2A>C
3 papers
NM_003001.5
p.N26Splc
c.78-2A>G
1 paper
NM_003001.5
p.N26Splc
c.78-2A>T
1 paper
NM_003001.5
p.P29delFs
c.86delC
1 paper
NM_003001.5
p.P29fs
c.85_86fs
1 paper
NM_003001.5
p.P29_G31Fs
c.86_92delinsGGFs
1 paper
NM_003001.5
p.P29L
c.86C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."