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.Q186R

c.557A>G

Surrounding Variants

3 papers

NM_001923.5

p.R188W

c.562C>T

1 paper

NM_001923.5

p.Q183_D184Splc

c.550-1G>T

1 paper

NM_001923.5

p.T192S

c.574A>T

1 paper

NM_001923.5

p.T192S

c.575C>G

1 paper

NM_001923.5

p.E194D

c.582G>T

1 paper

NM_001923.5

p.E194D

c.582G>C

1 paper

NM_001923.5

p.E199D

c.597A>T

1 paper

NM_001923.5

p.E199D

c.597A>C

1 paper

NM_001923.5

p.K204R

c.611A>G

1 paper

NM_001923.5

p.K204N

c.612G>T

1 paper

NM_001923.5

p.K204N

c.612G>C

1 paper

NM_001923.5

p.P206L

c.617C>T