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.N99fs

c.295_296fs

Surrounding Variants

2 papers

NM_001018113.3

p.N99K

c.297T>G

2 papers

NM_001018113.3

p.N99K

c.297T>A

2 papers

NM_001018113.3

p.N99delFs

c.295delT

1 paper

NM_001018113.3

p.N99fs

c.295_296fs

1 paper

NM_001018113.3

p.E97K

c.289G>A

1 paper

NM_001018113.3

p.V104insFs

c.311_312ins5

1 paper

NM_001018113.3

p.F105fs

c.313_314fs

1 paper

NM_001018113.3

p.Y93F

c.278A>T

1 paper

NM_001018113.3

p.N102_F108insFs

c.304_323dup20

1 paper

NM_001018113.3

p.N90K

c.270C>G

1 paper

NM_001018113.3

p.N90K

c.270C>A

1 paper

NM_001018113.3

p.L109fs

c.325_326fs