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.M541L

c.1621A>C

Surrounding Variants

1 paper

NM_001018113.3

p.M541L

c.1621A>T

1 paper

NM_001018113.3

p.T553M

c.1658C>T

1 paper

NM_001018113.3

p.L554F

c.1662G>T

1 paper

NM_001018113.3

p.L554F

c.1662G>C

1 paper

NM_001018113.3

p.D557fs

c.1669_1670fs

1 paper

NM_001018113.3

p.D557H

c.1669G>C

1 paper

NM_001018113.3

p.P556delFs

c.1668delA

1 paper

NM_001018113.3

p.Q524Q

c.1572A>G

1 paper

NM_001018113.3

p.D557fs

c.1669_1670fs

1 paper

NM_001018113.3

p.Q524*

c.1570C>T

1 paper

NM_001018113.3

p.Q524E

c.1570C>G

1 paper

NM_001018113.3

p.K559R

c.1676A>G