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

4 papers

NM_001018113.3

p.R409W

c.1225C>T

Surrounding Variants

1 paper

NM_001018113.3

p.R409Q

c.1226G>A

1 paper

NM_001018113.3

p.R406Q

c.1217G>A

1 paper

NM_001018113.3

p.L412L

c.1234C>T

1 paper

NM_001018113.3

p.R406W

c.1216C>T

1 paper

NM_001018113.3

p.S403delFs

c.1209delA

1 paper

NM_001018113.3

p.K415N

c.1245G>T

1 paper

NM_001018113.3

p.K415N

c.1245G>C

1 paper

NM_001018113.3

p.I418fs

c.1252_1253fs

1 paper

NM_001018113.3

p.I419ins2

c.1255_1256ins6

1 paper

NM_001018113.3

p.K424N

c.1272A>T

1 paper

NM_001018113.3

p.K424N

c.1272A>C

2 papers

NM_001018113.3

p.A425P

c.1273G>C