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.Y45C

c.134A>G

Surrounding Variants

1 paper

NM_003000.3

p.Y45_R46insFs

c.135_136ins13

3 papers

NM_003000.3

p.Y45_R46insCC

c.133_137ins6

3 papers

NM_003000.3

p.Y45*

c.135T>G

3 papers

NM_003000.3

p.Y45*

c.135T>A

91 papers

NM_003000.3

p.R46*

c.136C>T

1 paper

NM_003000.3

p.I44I

c.132C>T

29 papers

NM_003000.3

p.R46G

c.136C>G

4 papers

NM_003000.3

p.I44N

c.131T>A

7 papers

NM_003000.3

p.R46L

c.137G>T

113 papers

NM_003000.3

p.R46Q

c.137G>A

1 paper

NM_003000.3

p.I44fs

c.130_131fs

1 paper

NM_003000.3

p.I44V

c.130A>G