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

3 papers

NM_001923.5

p.Y517C

c.1550A>G

Surrounding Variants

1 paper

NM_001923.5

p.L516L

c.1548C>G

1 paper

NM_001923.5

p.V512A

c.1535T>C

1 paper

NM_001923.5

p.S506I

c.1517G>T

1 paper

NM_001923.5

p.S480A

c.1438T>G

1 paper

NM_001923.5

p.R477K

c.1430G>A

1 paper

NM_001923.5

p.R477G

c.1429A>G

1 paper

NM_001923.5

p.S475S

c.1425G>A

1 paper

NM_001923.5

p.E535Q

c.1603G>C

1 paper

NM_001923.5

p.D542Y

c.1624G>T

1 paper

NM_001923.5

p.D542H

c.1624G>C

1 paper

NM_001923.5

p.D542A

c.1625A>C

1 paper

NM_001923.5

p.S553F

c.1658C>T