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

3 papers

NM_013291.3

p.R1382Splc

c.4146-2A>G

Surrounding Variants

1 paper

NM_013291.3

p.R1382W

c.4144C>T

1 paper

NM_013291.3

p.M1383T

c.4148T>C

1 paper

NM_013291.3

p.R1388C

c.4162C>T

1 paper

NM_013291.3

p.V1395M

c.4183G>A

1 paper

NM_013291.3

p.R1382W

c.4144C>T

1 paper

NM_013291.3

p.Y1409H

c.4225T>C

1 paper

NM_013291.3

p.P1378L

c.4133C>T

1 paper

NM_013291.3

p.A1374T

c.4120G>A

1 paper

NM_013291.3

p.M1369I

c.4107G>T

1 paper

NM_013291.3

p.M1369I

c.4107G>C

1 paper

NM_013291.3

p.M1369I

c.4107G>A

1 paper

NM_013291.3

p.K1421N

c.4263G>T