Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.Q214_A215Splc

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.Q214_A215Splc
c.643-1G>A
Surrounding Variants
3 papers
NM_003000.3
p.A215T
c.643G>A
1 paper
NM_003000.3
p.Q214_A215Splc
c.643-2A>G
1 paper
NM_003000.3
p.Q214_A215Splc
c.643-2A>C
2 papers
NM_003000.3
p.A215V
c.644C>T
1 paper
NM_003000.3
p.A215D
c.644C>A
3 papers
NM_003000.3
p.A215delFs
c.644delG
1 paper
NM_003000.3
p.A215delFs
c.644_645delGG
2 papers
NM_003000.3
p.Y216fs
c.646_647fs
4 papers
NM_003000.3
p.Y216C
c.647A>G
30 papers
NM_003000.3
p.R217C
c.649C>T
5 papers
NM_003000.3
p.R217G
c.649C>G
2 papers
NM_003000.3
p.R217S
c.649C>A
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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."