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.Y812C

c.2435A>G

Surrounding Variants

2 papers

NM_001018113.3

p.R813I

c.2438G>T

1 paper

NM_001018113.3

p.L816P

c.2447T>C

2 papers

NM_001018113.3

p.R818G

c.2452A>G

1 paper

NM_001018113.3

p.R805K

c.2414G>A

1 paper

NM_001018113.3

p.K821*

c.2461A>T

1 paper

NM_001018113.3

p.L816_K821delFs

c.2446_2462del17

1 paper

NM_001018113.3

p.A800T

c.2398G>A

1 paper

NM_001018113.3

p.A799T

c.2395G>A

1 paper

NM_001018113.3

p.V798insFs

c.2393_2394insCT

4 papers

NM_001018113.3

p.T826M

c.2477C>T

1 paper

NM_001018113.3

p.V790delFs

c.2368delC

2 papers

NM_001018113.3

p.L834delFs

c.2500delG