Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.K80fs

SDHB

1,345 papers

RefSeq Summary

This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed o...

Pfam Domains

Fer2_3aa 41–144UCSC2Fe-2S iron-sulfur cluster binding domain
Fer4_17aa 167–240UCSC4Fe-4S dicluster domain

Gene Aliases

HGNC Name

succinate dehydrogenase complex iron sulfur subunit B

HGNC Previous Symbols

SDH1; SDH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003000.3
p.K80fs
c.238_239fs
Surrounding Variants
1 paper
NM_003000.3
p.K80*
c.238A>T
4 papers
NM_003000.3
p.K80E
c.238A>G
1 paper
NM_003000.3
p.K80Q
c.238A>C
2 papers
NM_003000.3
p.I79delFs
c.237delA
1 paper
NM_003000.3
p.I79M
c.237T>G
1 paper
NM_003000.3
p.K80fs
c.238_239fs
1 paper
NM_003000.3
p.K80insFs
c.239dupA
1 paper
NM_003000.3
p.I79_K80insFs
c.236_239dup4
2 papers
NM_003000.3
p.I79F
c.235A>T
1 paper
NM_003000.3
p.N81Y
c.241A>T
1 paper
NM_003000.3
p.N81D
c.241A>G
1 paper
NM_003000.3
p.I79V
c.235A>G
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