Varaico: Literature-Extracted Genetic Variants

FANCB

308 papers

RefSeq Summary

This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene c...

Pfam Domains

FANCB_Naa 19–369UCSCFanconi anemia group B protein N-terminal domain

FANCB_middleaa 474–749UCSCFanconi anaemia group B protein middle domain

FANCB_Caa 750–841UCSCFanconi anaemia group B protein C-terminal domain

FANCB_Caa 750–859UCSCFanconi anaemia group B protein C-terminal domain

Gene Aliases

HGNC Name

FA complementation group B

HGNC Alias Symbols

FAB; FLJ34064; FAAP95

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001018113.3

p.G294fs

c.880_881fs

Surrounding Variants

1 paper

NM_001018113.3

p.D291_S292delFs

c.871_874del4

1 paper

NM_001018113.3

p.G295insFs

c.883dupG

1 paper

NM_001018113.3

p.D291fs

c.871_872fs

3 papers

NM_001018113.3

p.M290T

c.869T>C

1 paper

NM_001018113.3

p.F298C

c.893T>G

1 paper

NM_001018113.3

p.F299I

c.895T>A

1 paper

NM_001018113.3

p.F299F

c.897C>T

1 paper

NM_001018113.3

p.D283N

c.847G>A

1 paper

NM_001018113.3

p.G282V

c.845G>T

1 paper

NM_001018113.3

p.N306K

c.918T>G

1 paper

NM_001018113.3

p.N306K

c.918T>A

1 paper

NM_001018113.3

p.Q278*

c.832C>T