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

5 papers

NM_003000.3

p.N248K

c.744C>A

Surrounding Variants

5 papers

NM_003000.3

p.N248K

c.744C>G

4 papers

NM_003000.3

p.C249G

c.745T>G

3 papers

NM_003000.3

p.C249R

c.745T>C

1 paper

NM_003000.3

p.C249S

c.745T>A

1 paper

NM_003000.3

p.I246_M247del2

c.736_740del6

1 paper

NM_003000.3

p.C249F

c.746G>T

1 paper

NM_003000.3

p.C249S

c.746G>C

8 papers

NM_003000.3

p.C249Y

c.746G>A

9 papers

NM_003000.3

p.C249*

c.747C>A

2 papers

NM_003000.3

p.M247R

c.740T>G

1 paper

NM_003000.3

p.T250fs

c.748_749fs

2 papers

NM_003000.3

p.T250I

c.749C>T