Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.D54V

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.D54V
c.161A>T
Surrounding Variants
1 paper
NM_003000.3
p.D54N
c.160G>A
1 paper
NM_003000.3
p.D48_D54delFs
c.142_161del20
1 paper
NM_003000.3
p.G53fs
c.157_158fs
1 paper
NM_003000.3
p.G53A
c.158G>C
19 papers
NM_003000.3
p.G53E
c.158G>A
2 papers
NM_003000.3
p.K55R
c.164A>G
1 paper
NM_003000.3
p.K55T
c.164A>C
1 paper
NM_003000.3
p.K55insFs
c.164_165insG
4 papers
NM_003000.3
p.G53R
c.157G>C
5 papers
NM_003000.3
p.G53R
c.157G>A
3 papers
NM_003000.3
p.A52delFs
c.155delG
1 paper
NM_003000.3
p.A52delFs
c.154_155delGC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."