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

1–12 of 220 variants

4 papers

NM_001923.5

p.K244E

c.730A>G

3 papers

NM_001923.5

p.R114H

c.341G>A

3 papers

NM_001923.5

p.R188W

c.562C>T

3 papers

NM_001923.5

p.Y517C

c.1550A>G

3 papers

NM_001923.5

p.P721L

c.2162C>T

3 papers

NM_001923.5

p.D1116N

c.3346G>A

2 papers

NM_001923.5

p.N4Y

c.10A>T

2 papers

NM_001923.5

p.K11R

c.32A>G

2 papers

NM_001923.5

p.E47K

c.139G>A

2 papers

NM_001923.5

p.P51P

c.153C>T

2 papers

NM_001923.5

p.E213K

c.637G>A

2 papers

NM_001923.5

p.A229fs

c.685_686fs