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

2 papers

NM_001018113.3

p.S606N

c.1817G>A

Surrounding Variants

1 paper

NM_001018113.3

p.R604_E605delFs

c.1811_1814del4

1 paper

NM_001018113.3

p.R604T

c.1811G>C

1 paper

NM_001018113.3

p.R604fs

c.1810_1811fs

1 paper

NM_001018113.3

p.M602_E603insFs

c.1806_1807insA

1 paper

NM_001018113.3

p.D612fs

c.1834_1835fs

1 paper

NM_001018113.3

p.R613C

c.1837C>T

1 paper

NM_001018113.3

p.L599delFs

c.1795delG

3 papers

NM_001018113.3

p.R613insFs

c.1838_1839insT

1 paper

NM_001018113.3

p.C595F

c.1784G>T

2 papers

NM_001018113.3

p.R619insFs

c.1856_1857insT

1 paper

NM_001018113.3

p.F593L

c.1777T>C

1 paper

NM_001018113.3

p.R619_V620insFs

c.1857_1858insT