Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.M247V

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
4 papers
NM_003000.3
p.M247V
c.739A>G
Surrounding Variants
2 papers
NM_003000.3
p.M247R
c.740T>G
1 paper
NM_003000.3
p.I246T
c.737T>C
2 papers
NM_003000.3
p.R242_I246del0
c.725_736del12
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.I246_M247del2
c.736_740del6
5 papers
NM_003000.3
p.N248K
c.744C>G
5 papers
NM_003000.3
p.N248K
c.744C>A
4 papers
NM_003000.3
p.C249G
c.745T>G
3 papers
NM_003000.3
p.C249R
c.745T>C
1 paper
NM_003000.3
p.C249S
c.745T>A
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