Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.R46*

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
91 papers
NM_003000.3
p.R46*
c.136C>T
Surrounding Variants
29 papers
NM_003000.3
p.R46G
c.136C>G
1 paper
NM_003000.3
p.Y45_R46insFs
c.135_136ins13
3 papers
NM_003000.3
p.Y45*
c.135T>G
3 papers
NM_003000.3
p.Y45*
c.135T>A
7 papers
NM_003000.3
p.R46L
c.137G>T
113 papers
NM_003000.3
p.R46Q
c.137G>A
1 paper
NM_003000.3
p.Y45C
c.134A>G
1 paper
NM_003000.3
p.R46delFs
c.136_137delCG
3 papers
NM_003000.3
p.Y45_R46insCC
c.133_137ins6
1 paper
NM_003000.3
p.T35_R46del12
c.103_137del36
16 papers
NM_003000.3
p.W47*
c.140G>A
2 papers
NM_003000.3
p.I44_W47del0
c.131_139del9
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