Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.I117fs

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.I117fs
c.349_350fs
Surrounding Variants
1 paper
NM_003000.3
p.I117T
c.350T>C
4 papers
NM_003000.3
p.D118Y
c.352G>T
1 paper
NM_003000.3
p.D118H
c.352G>C
4 papers
NM_003000.3
p.D118N
c.352G>A
1 paper
NM_003000.3
p.D118fs
c.352_353fs
3 papers
NM_003000.3
p.I117fs
c.349_350fs
4 papers
NM_003000.3
p.D118delFs
c.352delC
1 paper
NM_003000.3
p.R116delFs
c.348delC
3 papers
NM_003000.3
p.R116_D118delFs
c.348_352del5
1 paper
NM_003000.3
p.C113_D118delFs
c.339_352del14
1 paper
NM_003000.3
p.R116fs
c.346_347fs
1 paper
NM_003000.3
p.D118fs
c.352_353fs
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