Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.I220V

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
2 papers
NM_003000.3
p.I220V
c.658A>G
Surrounding Variants
1 paper
NM_003000.3
p.I220T
c.659T>C
4 papers
NM_003000.3
p.I220insFs
c.660dupT
2 papers
NM_003000.3
p.D221N
c.661G>A
1 paper
NM_003000.3
p.D221fs
c.661_662fs
2 papers
NM_003000.3
p.W218C
c.654G>T
2 papers
NM_003000.3
p.W218C
c.654G>C
11 papers
NM_003000.3
p.W218*
c.654G>A
2 papers
NM_003000.3
p.D221G
c.662A>G
1 paper
NM_003000.3
p.D221delFs
c.661delC
11 papers
NM_003000.3
p.W218S
c.653G>C
9 papers
NM_003000.3
p.W218*
c.653G>A
1 paper
NM_003000.3
p.W218_M219insA
c.652_656ins3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."