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

3 papers

NM_013291.3

p.Q267E

c.799C>G

Surrounding Variants

1 paper

NM_013291.3

p.T266_Q267delFs

c.797_801del5

1 paper

NM_013291.3

p.T266P

c.796A>C

1 paper

NM_013291.3

p.V271M

c.811G>A

1 paper

NM_013291.3

p.T259S

c.775A>T

1 paper

NM_013291.3

p.L258L

c.774C>T

1 paper

NM_013291.3

p.T248S

c.742A>T

1 paper

NM_013291.3

p.N246delFs

c.737_738delGT

1 paper

NM_013291.3

p.N246del1

c.736_737delGTT

1 paper

NM_013291.3

p.T237T

c.711G>C

1 paper

NM_013291.3

p.R234_Q235insAA

c.700_704ins6

1 paper

NM_013291.3

p.R230R

c.690C>T

1 paper

NM_013291.3

p.R230C

c.688C>T