Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.H127_T128ins1

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.H127_T128ins1
c.381_382insAAA
Surrounding Variants
29 papers
NM_003001.5
p.H127R
c.380A>G
1 paper
NM_003001.5
p.H127delFs
c.381delT
1 paper
NM_003001.5
p.H127D
c.379C>G
7 papers
NM_003001.5
p.H127Y
c.379C>T
1 paper
NM_003001.5
p.Y126*
c.378T>A
1 paper
NM_003001.5
p.Y126*
c.378T>G
1 paper
NM_003001.5
p.H127insFs
c.379dupC
7 papers
NM_003001.5
p.Y126C
c.377A>G
1 paper
NM_003001.5
p.Y126delFs
c.378delT
1 paper
NM_003001.5
p.W129insFs
c.386_387dupGG
3 papers
NM_003001.5
p.W129*
c.386G>A
2 papers
NM_003001.5
p.Y126fs
c.376_377fs
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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."