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.V45F

c.133G>T

Surrounding Variants

3 papers

NM_001018113.3

p.L43S

c.128T>C

2 papers

NM_001018113.3

p.L43I

c.127T>A

1 paper

NM_001018113.3

p.I42I

c.126A>T

1 paper

NM_001018113.3

p.P41L

c.122C>T

1 paper

NM_001018113.3

p.K39E

c.115A>G

1 paper

NM_001018113.3

p.D34V

c.101A>T

1 paper

NM_001018113.3

p.V56V

c.168A>T

1 paper

NM_001018113.3

p.G30E

c.89G>A

1 paper

NM_001018113.3

p.S61S

c.183C>T

1 paper

NM_001018113.3

p.S28P

c.82T>C

3 papers

NM_001018113.3

p.S61_T62delins

c.183_184delinsCT

1 paper

NM_001018113.3

p.Q26R

c.77A>G