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

1–12 of 310 variants

12 papers

NM_001018113.3

p.G335E

c.1004G>A

6 papers

NM_001018113.3

p.F590S

c.1769T>C

5 papers

NM_001018113.3

p.I330T

c.989T>C

4 papers

NM_001018113.3

p.Q317_V318Splc

c.951+1G>C

4 papers

NM_001018113.3

p.R409W

c.1225C>T

4 papers

NM_001018113.3

p.E781G

c.2342A>G

4 papers

NM_001018113.3

p.T826M

c.2477C>T

4 papers

NM_001018113.3

p.S849delFs

c.2546delG

3 papers

NM_001018113.3

p.L43S

c.128T>C

3 papers

NM_001018113.3

p.S61_T62delins

c.183_184delinsCT

3 papers

NM_001018113.3

p.F118S

c.353T>C

3 papers

NM_001018113.3

p.G271insFs

c.811_812insT