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.P230T

c.688C>A

Surrounding Variants

1 paper

NM_001018113.3

p.P230S

c.688C>T

1 paper

NM_001018113.3

p.I229M

c.687T>G

1 paper

NM_001018113.3

p.I229T

c.686T>C

1 paper

NM_001018113.3

p.Y227H

c.679T>C

1 paper

NM_001018113.3

p.S234S

c.702C>T

1 paper

NM_001018113.3

p.D225G

c.674A>G

1 paper

NM_001018113.3

p.A232_S235delFs

c.696_705del10

1 paper

NM_001018113.3

p.L223F

c.669A>T

1 paper

NM_001018113.3

p.Q220E

c.658C>G

2 papers

NM_001018113.3

p.E246D

c.738G>T

2 papers

NM_001018113.3

p.E246D

c.738G>C

1 paper

NM_001018113.3

p.E246E

c.738G>A