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.S169S

c.507T>C

Surrounding Variants

1 paper

NM_001018113.3

p.S169insFs

c.506dupC

2 papers

NM_001018113.3

p.W172*

c.515G>A

1 paper

NM_001018113.3

p.W172*

c.516G>A

1 paper

NM_001018113.3

p.N166T

c.497A>C

1 paper

NM_001018113.3

p.S162delFs

c.484delT

1 paper

NM_001018113.3

p.V161delFs

c.483delA

1 paper

NM_001018113.3

p.V161fs

c.481_482fs

1 paper

NM_001018113.3

p.T157insFs

c.470dupC

1 paper

NM_001018113.3

p.I153_Q156delFs

c.457_467del11

1 paper

NM_001018113.3

p.S154P

c.460T>C

1 paper

NM_001018113.3

p.G185V

c.554G>T

1 paper

NM_001018113.3

p.F152L

c.456T>G