Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.R115L

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.R115L
c.344G>T
Surrounding Variants
4 papers
NM_003000.3
p.R115Q
c.344G>A
1 paper
NM_003000.3
p.T114delFs
c.341_342delGG
37 papers
NM_003000.3
p.R115*
c.343C>T
3 papers
NM_003000.3
p.R115G
c.343C>G
1 paper
NM_003000.3
p.R116M
c.347G>T
1 paper
NM_003000.3
p.R116insFs
c.347_348insC
1 paper
NM_003000.3
p.R116T
c.347G>C
2 papers
NM_003000.3
p.R116K
c.347G>A
1 paper
NM_003000.3
p.T114_R116delFs
c.342_346del5
1 paper
NM_003000.3
p.C113_T114delFs
c.337_340del4
1 paper
NM_003000.3
p.R116fs
c.346_347fs
2 papers
NM_003000.3
p.T114A
c.340A>G
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