Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF1
Variant:p.G57R

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
9 papers
NM_001042631.3
p.G57R
c.169G>C
Surrounding Variants
8 papers
NM_001042631.3
p.G57R
c.169G>A
1 paper
NM_001042631.3
p.G57delFs
c.169delG
4 papers
NM_001042631.3
p.G57E
c.170G>A
1 paper
NM_001042631.3
p.G57A
c.170G>C
13 papers
NM_001042631.3
p.R55P
c.164G>C
2 papers
NM_001042631.3
p.Y52*
c.156C>A
2 papers
NM_001042631.3
p.Y52*
c.156C>G
1 paper
NM_001042631.3
p.L61Q
c.182T>A
2 papers
NM_001042631.3
p.E51V
c.152A>T
1 paper
NM_001042631.3
p.E51K
c.151G>A
1 paper
NM_001042631.3
p.G67S
c.199G>A
1 paper
NM_001042631.3
p.M72fs
c.214_215fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."