Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.L139R

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.L139R
c.416T>G
Surrounding Variants
23 papers
NM_003000.3
p.L139P
c.416T>C
1 paper
NM_003000.3
p.L139fs
c.415_416fs
3 papers
NM_003000.3
p.L139F
c.415C>T
2 papers
NM_003000.3
p.D138E
c.414T>G
2 papers
NM_003000.3
p.D138E
c.414T>A
53 papers
NM_003000.3
p.V140F
c.418G>T
1 paper
NM_003000.3
p.V140I
c.418G>A
1 paper
NM_003000.3
p.P131_L139del9
c.391_416del27
1 paper
NM_003000.3
p.V140D
c.419T>A
2 papers
NM_003000.3
p.V140delFs
c.418delC
1 paper
NM_003000.3
p.D138G
c.413A>G
1 paper
NM_003000.3
p.D138insFs
c.412dupG
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."