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.Y189C

c.566A>G

Surrounding Variants

1 paper

NM_013291.3

p.D192G

c.575A>G

1 paper

NM_013291.3

p.V193L

c.577G>T

1 paper

NM_013291.3

p.V193L

c.577G>C

2 papers

NM_013291.3

p.V193M

c.577G>A

1 paper

NM_013291.3

p.R194L

c.581G>T

1 paper

NM_013291.3

p.I204V

c.610A>G

1 paper

NM_013291.3

p.L206R

c.617T>G

1 paper

NM_013291.3

p.H210Y

c.628C>T

1 paper

NM_013291.3

p.L217F

c.649C>T

1 paper

NM_013291.3

p.F221L

c.661T>C

1 paper

NM_013291.3

p.F221L

c.663T>G

1 paper

NM_013291.3

p.F221L

c.663T>A