Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.A2delFs

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
7 papers
NM_003001.5
p.A2delFs
c.6delT
Surrounding Variants
1 paper
NM_003001.5
p.A2D
c.5C>A
1 paper
NM_003001.5
p.A2Fs
c.5delinsAAAFs
1 paper
NM_003001.5
p.A2delins
c.5delinsGAAA
1 paper
NM_003001.5
p.A2V
c.5C>T
2 papers
NM_003001.5
p.A2fs
c.4_5fs
1 paper
NM_003001.5
p.A3delFs
c.7_8delGC
10 papers
NM_003001.5
p.M1I
c.3G>A
2 papers
NM_003001.5
p.A3T
c.7G>A
7 papers
NM_003001.5
p.M1I
c.3G>C
1 paper
NM_003001.5
p.M1_A2insFs
c.3_4insA
1 paper
NM_003001.5
p.A3insFs
c.8dupC
4 papers
NM_003001.5
p.A3fs
c.7_8fs
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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."