Varaico: Literature-Extracted Genetic Variants

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

6 papers

NM_003000.3

p.R217H

c.650G>A

Surrounding Variants

4 papers

NM_003000.3

p.R217L

c.650G>T

1 paper

NM_003000.3

p.R217P

c.650G>C

30 papers

NM_003000.3

p.R217C

c.649C>T

5 papers

NM_003000.3

p.R217G

c.649C>G

2 papers

NM_003000.3

p.R217S

c.649C>A

1 paper

NM_003000.3

p.W218_M219insA

c.652_656ins3

11 papers

NM_003000.3

p.W218S

c.653G>C

9 papers

NM_003000.3

p.W218*

c.653G>A

4 papers

NM_003000.3

p.Y216C

c.647A>G

3 papers

NM_003000.3

p.A215delFs

c.644delG

1 paper

NM_003000.3

p.A215delFs

c.644_645delGG

2 papers

NM_003000.3

p.Y216fs

c.646_647fs