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

2 papers

NM_001923.5

p.P51P

c.153C>T

Surrounding Variants

1 paper

NM_001923.5

p.R50Q

c.149G>A

1 paper

NM_001923.5

p.K53R

c.158A>G

2 papers

NM_001923.5

p.E47K

c.139G>A

1 paper

NM_001923.5

p.A46T

c.136G>A

1 paper

NM_001923.5

p.A62V

c.185C>T

1 paper

NM_001923.5

p.T37_R38delFs

c.111_112delTC

1 paper

NM_001923.5

p.E65_L66insACT

c.193_197ins9

1 paper

NM_001923.5

p.N36delFs

c.107delT

1 paper

NM_001923.5

p.N36fs

c.106_107fs

1 paper

NM_001923.5

p.A26G

c.77C>G

1 paper

NM_001923.5

p.H22ins1

c.65_66insACT

2 papers

NM_001923.5

p.K11R

c.32A>G