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.K211N

c.633A>T

Surrounding Variants

1 paper

NM_001018113.3

p.T210I

c.629C>T

1 paper

NM_001018113.3

p.D204V

c.611A>T

1 paper

NM_001018113.3

p.Q220E

c.658C>G

1 paper

NM_001018113.3

p.L223F

c.669A>T

1 paper

NM_001018113.3

p.Q198P

c.593A>C

1 paper

NM_001018113.3

p.Q198E

c.592C>G

1 paper

NM_001018113.3

p.D225G

c.674A>G

1 paper

NM_001018113.3

p.Q198fs

c.592_593fs

1 paper

NM_001018113.3

p.T197_Q198insFs

c.591_592ins4

1 paper

NM_001018113.3

p.T197T

c.591T>G

1 paper

NM_001018113.3

p.Y227H

c.679T>C

1 paper

NM_001018113.3

p.I229T

c.686T>C