Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.K55R

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.K55R
c.164A>G
Surrounding Variants
1 paper
NM_003000.3
p.K55T
c.164A>C
1 paper
NM_003000.3
p.K55insFs
c.164_165insG
11 papers
NM_003000.3
p.P56fs
c.166_167fs
1 paper
NM_003000.3
p.P56S
c.166C>T
1 paper
NM_003000.3
p.D48_D54delFs
c.142_161del20
7 papers
NM_003000.3
p.P56L
c.167C>T
2 papers
NM_003000.3
p.D54V
c.161A>T
6 papers
NM_003000.3
p.P56fs
c.166_167fs
1 paper
NM_003000.3
p.P56delFs
c.166delG
1 paper
NM_003000.3
p.D54N
c.160G>A
1 paper
NM_003000.3
p.G53fs
c.157_158fs
1 paper
NM_003000.3
p.G53A
c.158G>C
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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."