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

1–12 of 318 variants

4 papers

NM_013291.3

p.Y5*

c.15C>G

4 papers

NM_013291.3

p.Y5*

c.15C>A

4 papers

NM_013291.3

p.Q620*

c.1858C>T

4 papers

NM_013291.3

p.S941_G942delFs

c.2823_2824delCT

4 papers

NM_013291.3

p.D1275Y

c.3823G>T

3 papers

NM_013291.3

p.N29K

c.87C>G

3 papers

NM_013291.3

p.N29K

c.87C>A

3 papers

NM_013291.3

p.Q267E

c.799C>G

3 papers

NM_013291.3

p.V943fs

c.2827_2828fs

3 papers

NM_013291.3

p.K1288_F1291insFs

c.3862_3871dup10

3 papers

NM_013291.3

p.R1382Splc

c.4146-2A>G

2 papers

NM_013291.3

p.E67K

c.199G>A