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

1–12 of 70 variants

3 papers

NM_016207.4

p.*685S

c.2054G>C

2 papers

NM_016207.4

p.D75N

c.223G>A

2 papers

NM_016207.4

p.G330S

c.988G>A

2 papers

NM_016207.4

p.K473R

c.1418A>G

2 papers

NM_016207.4

p.D578N

c.1732G>A

1 paper

NM_016207.4

p.I4S

c.11T>G

1 paper

NM_016207.4

p.P5R

c.14C>G

1 paper

NM_016207.4

p.E7K

c.19G>A

1 paper

NM_016207.4

p.D10E

c.30C>G

1 paper

NM_016207.4

p.A19D

c.56C>A

1 paper

NM_016207.4

p.G20E

c.59G>A

1 paper

NM_016207.4

p.V23V

c.69A>C