Varaico: Literature-Extracted Genetic Variants

DDB1

302 papers

RefSeq Summary

The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions i...

Pfam Domains

Beta-prop_RSE1_1staa 14–354UCSCRSE1/DDB1/CPSF1 first beta-propeller

Beta-prop_RSE1_2ndaa 396–704UCSCRSE1/DDB1/CPSF1 second beta-propeller

CPSF_Aaa 788–1099UCSCCPSF A subunit region

Gene Aliases

HGNC Name

damage specific DNA binding protein 1

HGNC Previous Name

damage-specific DNA binding protein 1 (127kD)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001923.5

p.T238A

c.712A>G

Surrounding Variants

1 paper

NM_001923.5

p.E235K

c.703G>A

1 paper

NM_001923.5

p.N241I

c.722A>T

1 paper

NM_001923.5

p.G242C

c.724G>T

4 papers

NM_001923.5

p.K244E

c.730A>G

2 papers

NM_001923.5

p.A229fs

c.685_686fs

1 paper

NM_001923.5

p.A229fs

c.685_686fs

1 paper

NM_001923.5

p.G228G

c.684G>T

1 paper

NM_001923.5

p.A249S

c.745G>T

1 paper

NM_001923.5

p.I252L

c.754A>C

1 paper

NM_001923.5

p.P223A

c.667C>G

1 paper

NM_001923.5

p.I253N

c.758T>A

1 paper

NM_001923.5

p.V222V

c.666C>G