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

1 paper

NM_003000.3

p.L240Q

c.719T>A

Surrounding Variants

2 papers

NM_003000.3

p.L240P

c.719T>C

2 papers

NM_003000.3

p.S239insFs

c.717dupT

1 paper

NM_003000.3

p.S239delFs

c.717delA

6 papers

NM_003000.3

p.L240fs

c.718_719fs

3 papers

NM_003000.3

p.L240fs

c.718_719fs

3 papers

NM_003000.3

p.L240delFs

c.718_719delAG

7 papers

NM_003000.3

p.S239_L240delFs

c.716_719del4

1 paper

NM_003000.3

p.S239fs

c.715_716fs

5 papers

NM_003000.3

p.Y241D

c.721T>G

2 papers

NM_003000.3

p.S239delFs

c.716delG

5 papers

NM_003000.3

p.S239F

c.716C>T

4 papers

NM_003000.3

p.S239C

c.716C>G