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.H1077R

c.3230A>G

Surrounding Variants

1 paper

NM_001923.5

p.E1079K

c.3235G>A

1 paper

NM_001923.5

p.E1079D

c.3237G>T

1 paper

NM_001923.5

p.E1079D

c.3237G>C

1 paper

NM_001923.5

p.D1115G

c.3344A>G

1 paper

NM_001923.5

p.D1115D

c.3345C>T

3 papers

NM_001923.5

p.D1116N

c.3346G>A

1 paper

NM_001923.5

p.K1121R

c.3362A>G

1 paper

NM_001923.5

p.E1123K

c.3367G>A

1 paper

NM_001923.5

p.S1118_R1122del5

c.3352_3365del15

2 papers

NM_001923.5

p.R1057*

c.3169C>T

1 paper

NM_001923.5

p.N1049S

c.3146A>G

2 papers

NM_001923.5

p.V1028_F1030delFs

c.3084_3088del5