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.P129A

c.385C>G

Surrounding Variants

3 papers

NM_003000.3

p.P129L

c.386C>T

4 papers

NM_003000.3

p.P129R

c.386C>G

2 papers

NM_003000.3

p.Y128C

c.383A>G

1 paper

NM_003000.3

p.Y128S

c.383A>C

1 paper

NM_003000.3

p.I127delFs

c.381delG

1 paper

NM_003000.3

p.N120_I127del8

c.358_380del24

2 papers

NM_003000.3

p.L130F

c.388C>T

1 paper

NM_003000.3

p.L130insFs

c.388dupC

1 paper

NM_003000.3

p.L130P

c.389T>C

3 papers

NM_003000.3

p.I127fs

c.379_380fs

1 paper

NM_003000.3

p.I127_Y128ins1

c.381_382insAAA

1 paper

NM_003000.3

p.K126_I127del1

c.378_380delATT