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.D48fs

c.142_143fs

Surrounding Variants

19 papers

NM_003000.3

p.W47*

c.141G>A

30 papers

NM_003000.3

p.D48V

c.143A>T

1 paper

NM_003000.3

p.D48delFs

c.142delC

16 papers

NM_003000.3

p.W47*

c.140G>A

2 papers

NM_003000.3

p.I44_W47del0

c.131_139del9

1 paper

NM_003000.3

p.D48fs

c.142_143fs

1 paper

NM_003000.3

p.T35_R46del12

c.103_137del36

1 paper

NM_003000.3

p.P49S

c.145C>T

2 papers

NM_003000.3

p.D48insFs

c.143_144dupAC

1 paper

NM_003000.3

p.R46delFs

c.136_137delCG

7 papers

NM_003000.3

p.R46L

c.137G>T

113 papers

NM_003000.3

p.R46Q

c.137G>A