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

8 papers

NM_003000.3

p.C253Y

c.758G>A

Surrounding Variants

10 papers

NM_003000.3

p.C253delFs

c.757delA

1 paper

NM_003000.3

p.C253G

c.757T>G

2 papers

NM_003000.3

p.C253R

c.757T>C

4 papers

NM_003000.3

p.C253fs

c.757_758fs

2 papers

NM_003000.3

p.C253delFs

c.757_758delCA

12 papers

NM_003000.3

p.P254L

c.761C>T

1 paper

NM_003000.3

p.T252I

c.755C>T

10 papers

NM_003000.3

p.P254insFs

c.761_762insC

1 paper

NM_003000.3

p.T252A

c.754A>G

5 papers

NM_003000.3

p.K255*

c.763A>T

5 papers

NM_003000.3

p.K255E

c.763A>G

1 paper

NM_003000.3

p.T250_P254del5

c.748_761del15