Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.Q169R

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.Q169R
c.506A>G
Surrounding Variants
1 paper
NM_003000.3
p.Q169fs
c.505_506fs
8 papers
NM_003000.3
p.Q169*
c.505C>T
1 paper
NM_003000.3
p.Q168_Q169del2
c.502_506del6
2 papers
NM_003000.3
p.Q168insFs
c.503dupA
1 paper
NM_003000.3
p.Q168Q
c.504G>A
1 paper
NM_003000.3
p.Y170insFs
c.508dupT
5 papers
NM_003000.3
p.Q168insFs
c.502dupC
1 paper
NM_003000.3
p.Y170insFs
c.509_510insAA
1 paper
NM_003000.3
p.Y170*
c.510T>G
1 paper
NM_003000.3
p.Y170*
c.510T>A
1 paper
NM_003000.3
p.Q168fs
c.502_503fs
7 papers
NM_003000.3
p.Q168*
c.502C>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."