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.D137Y

c.409G>T

Surrounding Variants

1 paper

NM_001923.5

p.G132fs

c.394_395fs

1 paper

NM_001923.5

p.P144Q

c.431C>A

1 paper

NM_001923.5

p.D148Y

c.442G>T

1 paper

NM_001923.5

p.P126S

c.376C>T

1 paper

NM_001923.5

p.E151G

c.452A>G

1 paper

NM_001923.5

p.T118T

c.354C>A

1 paper

NM_001923.5

p.E117D

c.351G>T

1 paper

NM_001923.5

p.E117D

c.351G>C

1 paper

NM_001923.5

p.I157T

c.470T>C

1 paper

NM_001923.5

p.P115L

c.344C>T

3 papers

NM_001923.5

p.R114H

c.341G>A

1 paper

NM_001923.5

p.R114C

c.340C>T