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.P559L

c.1676C>T

Surrounding Variants

1 paper

NM_013291.3

p.S560T

c.1679G>C

1 paper

NM_013291.3

p.S560N

c.1679G>A

1 paper

NM_013291.3

p.T561N

c.1682C>A

1 paper

NM_013291.3

p.E553V

c.1658A>T

1 paper

NM_013291.3

p.N549K

c.1647T>G

1 paper

NM_013291.3

p.N549K

c.1647T>A

1 paper

NM_013291.3

p.N549S

c.1646A>G

1 paper

NM_013291.3

p.N549H

c.1645A>C

1 paper

NM_013291.3

p.R570C

c.1708C>T

1 paper

NM_013291.3

p.E547_D548del1

c.1641_1643delTCC

1 paper

NM_013291.3

p.R570H

c.1709G>A

1 paper

NM_013291.3

p.G573E

c.1718G>A