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.T2S

c.4A>T

Surrounding Variants

1 paper

NM_001018113.3

p.M1_T2insFs

c.3_4insA

2 papers

NM_001018113.3

p.M1T

c.2T>C

1 paper

NM_001018113.3

p.T2T

c.6T>C

1 paper

NM_001018113.3

p.M1K

c.2T>A

2 papers

NM_001018113.3

p.M1L

c.1A>T

2 papers

NM_001018113.3

p.M1V

c.1A>G

1 paper

NM_001018113.3

p.Q5insFs

c.13dupC

1 paper

NM_001018113.3

p.A6insFs

c.16dupG

1 paper

NM_001018113.3

p.Q5_A6del1

c.14_16delCTT

1 paper

NM_001018113.3

p.A6insFs

c.18dupA

1 paper

NM_001018113.3

p.M7I

c.21G>T

1 paper

NM_001018113.3

p.M7I

c.21G>C