Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.H244del1

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.H244del1
c.730_731delGTG
Surrounding Variants
1 paper
NM_003000.3
p.H244Q
c.732C>G
1 paper
NM_003000.3
p.L234_C243del10
c.700_728del30
1 paper
NM_003000.3
p.H244Y
c.730C>T
1 paper
NM_003000.3
p.H244D
c.730C>G
4 papers
NM_003000.3
p.I246F
c.736A>T
4 papers
NM_003000.3
p.I246V
c.736A>G
1 paper
NM_003000.3
p.R242_T245del0
c.724_735del12
1 paper
NM_003000.3
p.I246T
c.737T>C
2 papers
NM_003000.3
p.R242_I246del0
c.725_736del12
2 papers
NM_003000.3
p.C243W
c.729C>G
2 papers
NM_003000.3
p.C243F
c.728G>T
8 papers
NM_003000.3
p.C243S
c.728G>C
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."