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.N250_Q251insGA

c.748_752ins6

Surrounding Variants

1 paper

NM_001018113.3

p.Q251*

c.751C>T

1 paper

NM_001018113.3

p.L252fs

c.754_755fs

2 papers

NM_001018113.3

p.E246D

c.738G>T

2 papers

NM_001018113.3

p.E246D

c.738G>C

1 paper

NM_001018113.3

p.E246E

c.738G>A

1 paper

NM_001018113.3

p.I247_R253del7

c.739_758del21

1 paper

NM_001018113.3

p.L252_L256delFs

c.755_767del13

1 paper

NM_001018113.3

p.R261Q

c.782G>A

1 paper

NM_001018113.3

p.K262N

c.786G>T

1 paper

NM_001018113.3

p.A232_S235delFs

c.696_705del10

1 paper

NM_001018113.3

p.Q264*

c.790C>T

1 paper

NM_001018113.3

p.Q264K

c.790C>A