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.S762A

c.2284T>G

Surrounding Variants

1 paper

NM_001923.5

p.S772F

c.2315C>T

2 papers

NM_001923.5

p.E785K

c.2353G>A

1 paper

NM_001923.5

p.Y828fs

c.2482_2483fs

1 paper

NM_001923.5

p.F829fs

c.2485_2486fs

1 paper

NM_001923.5

p.P838S

c.2512C>T

1 paper

NM_001923.5

p.E839G

c.2516A>G

1 paper

NM_001923.5

p.E840Q

c.2518G>C

1 paper

NM_001923.5

p.E842E

c.2526G>A

1 paper

NM_001923.5

p.Q845H

c.2535G>T

1 paper

NM_001923.5

p.Q845H

c.2535G>C

1 paper

NM_001923.5

p.S854L

c.2561C>T

2 papers

NM_001923.5

p.G856Splc

c.2566+4A>G