Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.Y147C

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
9 papers
NM_003000.3
p.Y147C
c.440A>G
Surrounding Variants
1 paper
NM_003000.3
p.Y147F
c.440A>T
1 paper
NM_003000.3
p.Y147_A148insA
c.439_443ins3
4 papers
NM_003000.3
p.Y147*
c.441T>G
4 papers
NM_003000.3
p.Y147*
c.441T>A
1 paper
NM_003000.3
p.N145_F146del0
c.433_438del6
3 papers
NM_003000.3
p.A148T
c.442G>A
1 paper
NM_003000.3
p.Y147delFs
c.441delA
3 papers
NM_003000.3
p.F146L
c.438C>G
4 papers
NM_003000.3
p.F146L
c.438C>A
3 papers
NM_003000.3
p.F146delFs
c.436delA
2 papers
NM_003000.3
p.A148delFs
c.442delC
2 papers
NM_003000.3
p.F146V
c.436T>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."