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.H999Q

c.2997C>A

Surrounding Variants

1 paper

NM_001923.5

p.H999Q

c.2997C>G

1 paper

NM_001923.5

p.Q990*

c.2968C>T

1 paper

NM_001923.5

p.R989fs

c.2965_2966fs

1 paper

NM_001923.5

p.G1010A

c.3029G>C

1 paper

NM_001923.5

p.E1019K

c.3055G>A

1 paper

NM_001923.5

p.S1027L

c.3080C>T

2 papers

NM_001923.5

p.L1029fs

c.3085_3086fs

2 papers

NM_001923.5

p.V1028_F1030delFs

c.3084_3088del5

1 paper

NM_001923.5

p.N1049S

c.3146A>G

1 paper

NM_001923.5

p.A971D

c.2912C>A

2 papers

NM_001923.5

p.R1057*

c.3169C>T

1 paper

NM_001923.5

p.E958A

c.2873A>C