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

4 papers

NM_003000.3

p.Q164*

c.490C>T

Surrounding Variants

1 paper

NM_003000.3

p.S163S

c.489T>C

2 papers

NM_003000.3

p.Q164R

c.491A>G

2 papers

NM_003000.3

p.Q164H

c.492G>T

3 papers

NM_003000.3

p.Q164fs

c.490_491fs

1 paper

NM_003000.3

p.S163_Q164insFs

c.488_491dup4

2 papers

NM_003000.3

p.Q164H

c.492G>C

3 papers

NM_003000.3

p.Q164delFs

c.491delT

4 papers

NM_003000.3

p.S163F

c.488C>T

77 papers

NM_003000.3

p.S163P

c.487T>C

1 paper

NM_003000.3

p.E165*

c.493G>T

2 papers

NM_003000.3

p.E165fs

c.493_494fs

3 papers

NM_003000.3

p.E165delFs

c.493delC