Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.S53F

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.S53F
c.158C>T
Surrounding Variants
1 paper
NM_003001.5
p.P54delFs
c.160delC
2 papers
NM_003001.5
p.P54T
c.160C>A
3 papers
NM_003001.5
p.P54S
c.160C>T
3 papers
NM_003001.5
p.P54H
c.161C>A
1 paper
NM_003001.5
p.P54L
c.161C>T
1 paper
NM_003001.5
p.L52P
c.155T>C
1 paper
NM_003001.5
p.L52fs
c.154_155fs
1 paper
NM_003001.5
p.H55D
c.163C>G
1 paper
NM_003001.5
p.H55Y
c.163C>T
2 papers
NM_003001.5
p.I56_T57delFs
c.166_170del5
1 paper
NM_003001.5
p.P51P
c.153T>C
1 paper
NM_003001.5
p.L52delFs
c.154delC
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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."