Varaico: Literature-Extracted Genetic Variants

CPSF3

66 papers

RefSeq Summary

This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that rec...

Pfam Domains

Lactamase_B_6aa 1–165UCSCMetallo-beta-lactamase superfamily domain

Lactamase_Baa 20–220UCSCMetallo-beta-lactamase superfamily

Beta-Caspaa 209–330UCSCBeta-Casp domain

RMMBLaa 344–411UCSCZn-dependent metallo-hydrolase RNA specificity domain

CPSF73-100_Caa 442–645UCSCPre-mRNA 3'-end-processing endonuclease polyadenylation factor C-term

Gene Aliases

HGNC Name

cleavage and polyadenylation specific factor 3

HGNC Alias Symbols

CPSF-73; CPSF73; YSH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016207.4

p.V466D

c.1397T>A

Surrounding Variants

1 paper

NM_016207.4

p.G468E

c.1403G>A

2 papers

NM_016207.4

p.K473R

c.1418A>G

1 paper

NM_016207.4

p.G460E

c.1379G>A

1 paper

NM_016207.4

p.L427S

c.1280T>C

2 papers

NM_016207.4

p.D578N

c.1732G>A

1 paper

NM_016207.4

p.V587I

c.1759G>A

1 paper

NM_016207.4

p.Q588K

c.1762C>A

1 paper

NM_016207.4

p.P412P

c.1236T>G

1 paper

NM_016207.4

p.P411L

c.1232C>T

1 paper

NM_016207.4

p.R407H

c.1220G>A

1 paper

NM_016207.4

p.A395T

c.1183G>A

1 paper

NM_016207.4

p.I374V

c.1120A>G