Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF1

SDHAF1

42 papers

RefSeq Summary

The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and...

Pfam Domains

Complex1_LYRaa 9–63UCSCComplex 1 protein (LYR family)

Gene Aliases

HGNC Name

succinate dehydrogenase complex assembly factor 1

HGNC Alias Symbol

LYRM8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
13 papers
NM_001042631.3
p.R55P
c.164G>C
9 papers
NM_001042631.3
p.G57R
c.169G>C
8 papers
NM_001042631.3
p.G57R
c.169G>A
4 papers
NM_001042631.3
p.G57E
c.170G>A
4 papers
NM_001042631.3
p.C90S
c.268T>A
4 papers
NM_001042631.3
p.C90S
c.269G>C
3 papers
NM_001042631.3
p.Q8*
c.22C>T
2 papers
NM_001042631.3
p.M1I
c.3G>A
2 papers
NM_001042631.3
p.Q10P
c.29A>C
2 papers
NM_001042631.3
p.E51V
c.152A>T
2 papers
NM_001042631.3
p.Y52*
c.156C>A
2 papers
NM_001042631.3
p.Y52*
c.156C>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."