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.L710V

c.2128C>G

Surrounding Variants

1 paper

NM_001923.5

p.P716S

c.2146C>T

1 paper

NM_001923.5

p.T700I

c.2099C>T

3 papers

NM_001923.5

p.P721L

c.2162C>T

1 paper

NM_001923.5

p.P721Q

c.2162C>A

1 paper

NM_001923.5

p.R722W

c.2164A>T

1 paper

NM_001923.5

p.R739H

c.2216G>A

1 paper

NM_001923.5

p.T758A

c.2272A>G

1 paper

NM_001923.5

p.K674R

c.2021A>G

1 paper

NM_001923.5

p.T657A

c.1969A>G

1 paper

NM_001923.5

p.S762A

c.2284T>G

1 paper

NM_001923.5

p.R642C

c.1924C>T

1 paper

NM_001923.5

p.Q634*

c.1900C>T