Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.D138N

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.D138N
c.412G>A
Surrounding Variants
1 paper
NM_003001.5
p.D138Y
c.412G>T
1 paper
NM_003001.5
p.D138G
c.413A>G
1 paper
NM_003001.5
p.D138E
c.414C>A
1 paper
NM_003001.5
p.D138E
c.414C>G
1 paper
NM_003001.5
p.L139fs
c.415_416fs
2 papers
NM_003001.5
p.L139L
c.415C>T
1 paper
NM_003001.5
p.D138insFs
c.412dupG
3 papers
NM_003001.5
p.W137fs
c.409_410fs
1 paper
NM_003001.5
p.W137delFs
c.411delG
3 papers
NM_003001.5
p.W137delFs
c.409delT
11 papers
NM_003001.5
p.L139P
c.416T>C
1 paper
NM_003001.5
p.L139R
c.416T>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."