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.F1291insFs

c.3871dupT

Surrounding Variants

3 papers

NM_013291.3

p.K1288_F1291insFs

c.3862_3871dup10

2 papers

NM_013291.3

p.R1317W

c.3949C>T

1 paper

NM_013291.3

p.R1317fs

c.3949_3950fs

1 paper

NM_013291.3

p.A1319V

c.3956C>T

1 paper

NM_013291.3

p.G1322A

c.3965G>C

1 paper

NM_013291.3

p.P1285L

c.3854C>T

1 paper

NM_013291.3

p.M1282I

c.3846G>A

1 paper

NM_013291.3

p.K1325R

c.3974A>G

1 paper

NM_013291.3

p.M1282T

c.3845T>C

2 papers

NM_013291.3

p.S1327L

c.3980C>T

1 paper

NM_013291.3

p.V1328I

c.3982G>A

1 paper

NM_013291.3

p.V1329M

c.3985G>A