Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.R242G

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.R242G
c.724C>G
Surrounding Variants
31 papers
NM_003000.3
p.R242C
c.724C>T
9 papers
NM_003000.3
p.R242S
c.724C>A
102 papers
NM_003000.3
p.R242H
c.725G>A
2 papers
NM_003000.3
p.Y241*
c.723C>G
1 paper
NM_003000.3
p.Y241*
c.723C>A
1 paper
NM_003000.3
p.L240_Y241del1
c.720_722delTAT
5 papers
NM_003000.3
p.E229_R242delFs
c.686_725del40
2 papers
NM_003000.3
p.Y241C
c.722A>G
5 papers
NM_003000.3
p.L240_Y241delFs
c.718_721del4
5 papers
NM_003000.3
p.Y241D
c.721T>G
8 papers
NM_003000.3
p.C243S
c.727T>A
1 paper
NM_003000.3
p.Y241_R242delFs
c.722_726del5
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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."