Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.L139P

SDHD

863 papers

RefSeq Summary

This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the compl...

Pfam Domains

CybSaa 41–158UCSCCybS, succinate dehydrogenase cytochrome B small subunit

Gene Aliases

HGNC Name

succinate dehydrogenase complex subunit D

HGNC Previous Symbols

PGL; PGL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
64 papers
NM_003002.4
p.L139P
c.416T>C
Surrounding Variants
1 paper
NM_003002.4
p.L139R
c.416T>G
1 paper
NM_003002.4
p.L139fs
c.415_416fs
2 papers
NM_003002.4
p.L139F
c.415C>T
2 papers
NM_003002.4
p.C140delFs
c.418delT
1 paper
NM_003002.4
p.C140fs
c.418_419fs
1 paper
NM_003002.4
p.C140F
c.419G>T
1 paper
NM_003002.4
p.C140W
c.420C>G
5 papers
NM_003002.4
p.G138R
c.412G>A
4 papers
NM_003002.4
p.G138R
c.412G>C
2 papers
NM_003002.4
p.G138W
c.412G>T
1 paper
NM_003002.4
p.A137A
c.411T>A
1 paper
NM_003002.4
p.Y141H
c.421T>C
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