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

3 papers

NM_001018113.3

p.F118S

c.353T>C

Surrounding Variants

1 paper

NM_001018113.3

p.K117R

c.350A>G

2 papers

NM_001018113.3

p.R121C

c.361C>T

1 paper

NM_001018113.3

p.F124Y

c.371T>A

1 paper

NM_001018113.3

p.I111M

c.333C>G

1 paper

NM_001018113.3

p.L109fs

c.325_326fs

1 paper

NM_001018113.3

p.L109delFs

c.326delA

1 paper

NM_001018113.3

p.N102_F108insFs

c.304_323dup20

1 paper

NM_001018113.3

p.F105fs

c.313_314fs

1 paper

NM_001018113.3

p.V104insFs

c.311_312ins5

1 paper

NM_001018113.3

p.R135G

c.403A>G

1 paper

NM_001018113.3

p.V136I

c.406G>A

1 paper

NM_001018113.3

p.N99fs

c.295_296fs