Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF1
Variant:p.M1I

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
2 papers
NM_001042631.3
p.M1I
c.3G>A
Surrounding Variants
1 paper
NM_001042631.3
p.M1I
c.3G>C
1 paper
NM_001042631.3
p.M1I
c.3G>T
1 paper
NM_001042631.3
p.S2R
c.4A>C
1 paper
NM_001042631.3
p.S2R
c.6C>A
1 paper
NM_001042631.3
p.S2R
c.6C>G
3 papers
NM_001042631.3
p.Q8*
c.22C>T
2 papers
NM_001042631.3
p.Q10P
c.29A>C
1 paper
NM_001042631.3
p.L19L
c.57G>A
1 paper
NM_001042631.3
p.A21T
c.61G>A
1 paper
NM_001042631.3
p.E35*
c.103G>T
1 paper
NM_001042631.3
p.R37_P43del0
c.110_127del18
1 paper
NM_001042631.3
p.Q38Q
c.114G>A
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