Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.L212insFs

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.L212insFs
c.636dupT
Surrounding Variants
1 paper
NM_003000.3
p.M213fs
c.637_638fs
2 papers
NM_003000.3
p.M213L
c.637A>T
1 paper
NM_003000.3
p.M213V
c.637A>G
2 papers
NM_003000.3
p.M213L
c.637A>C
1 paper
NM_003000.3
p.L212delFs
c.635_636delAA
6 papers
NM_003000.3
p.M213insFs
c.637dupA
1 paper
NM_003000.3
p.M213T
c.638T>C
1 paper
NM_003000.3
p.L212L
c.636T>C
1 paper
NM_003000.3
p.L212P
c.635T>C
1 paper
NM_003000.3
p.L212H
c.635T>A
3 papers
NM_003000.3
p.M213fs
c.637_638fs
10 papers
NM_003000.3
p.Q214*
c.640C>T
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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."