Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF1
Variant:p.E35*

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
Selected Variant
1 paper
NM_001042631.3
p.E35*
c.103G>T
Surrounding Variants
1 paper
NM_001042631.3
p.R37_P43del0
c.110_127del18
1 paper
NM_001042631.3
p.Q38Q
c.114G>A
1 paper
NM_001042631.3
p.A21T
c.61G>A
1 paper
NM_001042631.3
p.L19L
c.57G>A
1 paper
NM_001042631.3
p.E51K
c.151G>A
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
13 papers
NM_001042631.3
p.R55P
c.164G>C
1 paper
NM_001042631.3
p.G57delFs
c.169delG
8 papers
NM_001042631.3
p.G57R
c.169G>A
9 papers
NM_001042631.3
p.G57R
c.169G>C
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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."