Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF2
Variant:p.L70R

SDHAF2

242 papers

RefSeq Summary

This gene encodes a mitochondrial assembly factor needed for the flavination of a succinate dehydrogenase complex subunit (SDHA), which is required for activity of the succinate dehydrogenase complex....

Pfam Domains

Sdh5aa 68–144UCSCFlavinator of succinate dehydrogenase

Gene Aliases

HGNC Name

succinate dehydrogenase complex assembly factor 2

HGNC Previous Symbols

PGL2; C11orf79

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017841.4
p.L70R
c.209T>G
Surrounding Variants
1 paper
NM_017841.4
p.L70M
c.208C>A
2 papers
NM_017841.4
p.R69H
c.206G>A
1 paper
NM_017841.4
p.R69C
c.205C>T
1 paper
NM_017841.4
p.A68A
c.204C>T
2 papers
NM_017841.4
p.E73K
c.217G>A
1 paper
NM_017841.4
p.E73Q
c.217G>C
1 paper
NM_017841.4
p.E73A
c.218A>C
1 paper
NM_017841.4
p.R67fs
c.199_200fs
1 paper
NM_017841.4
p.S74N
c.221G>A
3 papers
NM_017841.4
p.R75*
c.223A>T
3 papers
NM_017841.4
p.R67delFs
c.199delA
1 paper
NM_017841.4
p.E64E
c.192A>G
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