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.S941fs

c.2821_2822fs

Surrounding Variants

4 papers

NM_013291.3

p.S941_G942delFs

c.2823_2824delCT

1 paper

NM_013291.3

p.R930C

c.2788C>T

1 paper

NM_013291.3

p.R927H

c.2780G>A

1 paper

NM_013291.3

p.R925Q

c.2774G>A

1 paper

NM_013291.3

p.R925G

c.2773C>G

2 papers

NM_013291.3

p.A924T

c.2770G>A

1 paper

NM_013291.3

p.G942_V943Splc

c.2827-48C>T

3 papers

NM_013291.3

p.V943fs

c.2827_2828fs

1 paper

NM_013291.3

p.W952C

c.2856G>T

1 paper

NM_013291.3

p.W952C

c.2856G>C

1 paper

NM_013291.3

p.W952*

c.2856G>A

1 paper

NM_013291.3

p.R962W

c.2884C>T