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

2 papers

NM_003000.3

p.E229K

c.685G>A

Surrounding Variants

1 paper

NM_003000.3

p.E229*

c.685G>T

3 papers

NM_003000.3

p.E229insFs

c.685_686ins13

3 papers

NM_003000.3

p.E229insFs

c.685_686ins13

11 papers

NM_003000.3

p.E228delFs

c.683_684delCT

3 papers

NM_003000.3

p.E228fs

c.682_683fs

1 paper

NM_003000.3

p.E229insFs

c.686_687ins25

3 papers

NM_003000.3

p.E229D

c.687G>T

8 papers

NM_003000.3

p.E229fs

c.685_686fs

3 papers

NM_003000.3

p.E229D

c.687G>C

1 paper

NM_003000.3

p.E228Q

c.682G>C

1 paper

NM_003000.3

p.E228K

c.682G>A

3 papers

NM_003000.3

p.E228fs

c.682_683fs