Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.S239Y

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.S239Y
c.716C>A
Surrounding Variants
5 papers
NM_003000.3
p.S239F
c.716C>T
4 papers
NM_003000.3
p.S239C
c.716C>G
1 paper
NM_003000.3
p.S239fs
c.715_716fs
1 paper
NM_003000.3
p.S239P
c.715T>C
2 papers
NM_003000.3
p.S239delFs
c.716delG
3 papers
NM_003000.3
p.S239fs
c.715_716fs
1 paper
NM_003000.3
p.F238L
c.714C>G
2 papers
NM_003000.3
p.S239insFs
c.717dupT
6 papers
NM_003000.3
p.F238fs
c.712_713fs
1 paper
NM_003000.3
p.F238L
c.714C>A
11 papers
NM_003000.3
p.F238delFs
c.713delA
1 paper
NM_003000.3
p.S239delFs
c.717delA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."