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.A8V

c.23C>T

Surrounding Variants

4 papers

NM_013291.3

p.Y5*

c.15C>G

4 papers

NM_013291.3

p.Y5*

c.15C>A

1 paper

NM_013291.3

p.V4M

c.10G>A

1 paper

NM_013291.3

p.F16L

c.46T>C

1 paper

NM_013291.3

p.F16L

c.48C>G

1 paper

NM_013291.3

p.F16L

c.48C>A

1 paper

NM_013291.3

p.S17T

c.49T>A

1 paper

NM_013291.3

p.S17S

c.51C>A

1 paper

NM_013291.3

p.E27K

c.79G>A

3 papers

NM_013291.3

p.N29K

c.87C>G

3 papers

NM_013291.3

p.N29K

c.87C>A

1 paper

NM_013291.3

p.R63W

c.187C>T