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.L400delFs

c.1199_1200delCA

Surrounding Variants

1 paper

NM_013291.3

p.P404S

c.1210C>T

1 paper

NM_013291.3

p.T397delFs

c.1189_1190delGT

1 paper

NM_013291.3

p.P404L

c.1211C>T

1 paper

NM_013291.3

p.T397P

c.1189A>C

1 paper

NM_013291.3

p.K395R

c.1184A>G

1 paper

NM_013291.3

p.R387H

c.1160G>A

1 paper

NM_013291.3

p.G380R

c.1138G>C

1 paper

NM_013291.3

p.G380R

c.1138G>A

1 paper

NM_013291.3

p.P417S

c.1249C>T

1 paper

NM_013291.3

p.R423G

c.1267C>G

1 paper

NM_013291.3

p.V424L

c.1270G>T

1 paper

NM_013291.3

p.V424L

c.1270G>C