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.I612T

c.1835T>C

Surrounding Variants

1 paper

NM_013291.3

p.G613R

c.1837G>C

2 papers

NM_013291.3

p.G613R

c.1837G>A

1 paper

NM_013291.3

p.D614Y

c.1840G>T

1 paper

NM_013291.3

p.D614G

c.1841A>G

1 paper

NM_013291.3

p.I618T

c.1853T>C

4 papers

NM_013291.3

p.Q620*

c.1858C>T

1 paper

NM_013291.3

p.P623T

c.1867C>A

1 paper

NM_013291.3

p.F600F

c.1800C>T

1 paper

NM_013291.3

p.I626delFs

c.1876_1877delAT

1 paper

NM_013291.3

p.L628_V632delFs

c.1882_1894del13

1 paper

NM_013291.3

p.G589A

c.1766G>C

1 paper

NM_013291.3

p.I585I

c.1755C>A