Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.I145delFs

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.I145delFs
c.435delT
Surrounding Variants
1 paper
NM_003001.5
p.K144N
c.432G>C
1 paper
NM_003001.5
p.K144N
c.432G>T
1 paper
NM_003001.5
p.I145T
c.434T>C
1 paper
NM_003001.5
p.K144T
c.431A>C
1 paper
NM_003001.5
p.P146T
c.436C>A
1 paper
NM_003001.5
p.P146L
c.437C>T
1 paper
NM_003001.5
p.P146P
c.438C>A
1 paper
NM_003001.5
p.P146P
c.438C>G
1 paper
NM_003001.5
p.Q147K
c.439C>A
1 paper
NM_003001.5
p.Q147_L148insA
c.439_443ins3
3 papers
NM_003001.5
p.Q147*
c.439C>T
2 papers
NM_003001.5
p.Q147R
c.440A>G
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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."