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

12 papers

NM_001018113.3

p.G335E

c.1004G>A

Surrounding Variants

1 paper

NM_001018113.3

p.G335Fs

c.1003delinsGAFs

1 paper

NM_001018113.3

p.G335R

c.1003G>C

1 paper

NM_001018113.3

p.G335R

c.1003G>A

1 paper

NM_001018113.3

p.T338A

c.1012A>G

2 papers

NM_001018113.3

p.L329_I330delFs

c.987_990del4

1 paper

NM_001018113.3

p.Q340K

c.1018C>A

5 papers

NM_001018113.3

p.I330T

c.989T>C

3 papers

NM_001018113.3

p.L329P

c.986T>C

1 paper

NM_001018113.3

p.L327V

c.979T>G

1 paper

NM_001018113.3

p.D347D

c.1041C>T

1 paper

NM_001018113.3

p.W322L

c.965G>T

1 paper

NM_001018113.3

p.L349W

c.1046T>G