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

2 papers

NM_003000.3

p.Y199fs

c.595_596fs

Surrounding Variants

2 papers

NM_003000.3

p.Y199*

c.597C>G

2 papers

NM_003000.3

p.Y199*

c.597C>A

2 papers

NM_003000.3

p.W200R

c.598T>C

3 papers

NM_003000.3

p.W200R

c.598T>A

1 paper

NM_003000.3

p.W200fs

c.598_599fs

2 papers

NM_003000.3

p.Y199C

c.596A>G

1 paper

NM_003000.3

p.Y199insFs

c.595dupT

1 paper

NM_003000.3

p.Y199N

c.595T>A

1 paper

NM_003000.3

p.L188_S198del11

c.562_593del33

2 papers

NM_003000.3

p.W200L

c.599G>T

1 paper

NM_003000.3

p.W200insFs

c.598dupT

8 papers

NM_003000.3

p.W200*

c.599G>A