Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.F238L

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.F238L
c.712T>C
Surrounding Variants
1 paper
NM_003000.3
p.F238fs
c.712_713fs
1 paper
NM_003000.3
p.F238S
c.713T>C
1 paper
NM_003000.3
p.P237fs
c.709_710fs
3 papers
NM_003000.3
p.P237R
c.710C>G
1 paper
NM_003000.3
p.F238L
c.714C>G
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.S239P
c.715T>C
3 papers
NM_003000.3
p.S239fs
c.715_716fs
14 papers
NM_003000.3
p.P237S
c.709C>T
1 paper
NM_003000.3
p.P237A
c.709C>G
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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."