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.I1139V

c.3415A>G

Surrounding Variants

1 paper

NM_013291.3

p.R1138_I1139Splc

c.3415-13C>G

1 paper

NM_013291.3

p.G1152R

c.3454G>C

1 paper

NM_013291.3

p.P1154L

c.3461C>T

1 paper

NM_013291.3

p.Y1164D

c.3490T>G

1 paper

NM_013291.3

p.R1136*

c.3406C>T

1 paper

NM_013291.3

p.A1174T

c.3520G>A

1 paper

NM_013291.3

p.N1179S

c.3536A>G

1 paper

NM_013291.3

p.T1125S

c.3374C>G

1 paper

NM_013291.3

p.T1125S

c.3373A>T

1 paper

NM_013291.3

p.A1123T

c.3367G>A

1 paper

NM_013291.3

p.A1122T

c.3364G>A

1 paper

NM_013291.3

p.V1121M

c.3361G>A