Varaico: Literature-Extracted Genetic Variants

CPSF1

120 papers

RefSeq Summary

Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and int...

Pfam Domains

Beta-prop_RSE1_1staa 14–424UCSCRSE1/DDB1/CPSF1 first beta-propeller

Beta-prop_RSE1_2ndaa 521–1001UCSCRSE1/DDB1/CPSF1 second beta-propeller

CPSF_Aaa 1073–1409UCSCCPSF A subunit region

Gene Aliases

HGNC Name

cleavage and polyadenylation specific factor 1

HGNC Alias Symbol

CPSF160

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013291.3

p.D1275N

c.3823G>A

Surrounding Variants

4 papers

NM_013291.3

p.D1275Y

c.3823G>T

1 paper

NM_013291.3

p.R1274C

c.3820C>T

1 paper

NM_013291.3

p.D1273H

c.3817G>C

1 paper

NM_013291.3

p.M1282T

c.3845T>C

1 paper

NM_013291.3

p.V1271Splc

c.3812-11C>T

1 paper

NM_013291.3

p.M1282I

c.3846G>A

1 paper

NM_013291.3

p.P1285L

c.3854C>T

1 paper

NM_013291.3

p.N1264S

c.3791A>G

1 paper

NM_013291.3

p.M1261V

c.3781A>G

3 papers

NM_013291.3

p.K1288_F1291insFs

c.3862_3871dup10

1 paper

NM_013291.3

p.V1258L

c.3772G>T

1 paper

NM_013291.3

p.V1258L

c.3772G>C