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.P126A

c.376C>G

Surrounding Variants

1 paper

NM_013291.3

p.R129W

c.385C>T

1 paper

NM_013291.3

p.L115V

c.343C>G

1 paper

NM_013291.3

p.P110S

c.328C>T

1 paper

NM_013291.3

p.D109N

c.325G>A

1 paper

NM_013291.3

p.V133E

c.398T>A

1 paper

NM_013291.3

p.V136A

c.407T>C

2 papers

NM_013291.3

p.R140Q

c.419G>A

1 paper

NM_013291.3

p.D100N

c.298G>A

1 paper

NM_013291.3

p.R158W

c.472C>T

1 paper

NM_013291.3

p.D92N

c.274G>A

1 paper

NM_013291.3

p.A82delFs

c.246delG

1 paper

NM_013291.3

p.E171E

c.513G>A