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.A19D

c.56C>A

Surrounding Variants

1 paper

NM_016207.4

p.G20E

c.59G>A

1 paper

NM_016207.4

p.V23V

c.69A>C

1 paper

NM_016207.4

p.C41S

c.121T>A

1 paper

NM_016207.4

p.C41S

c.122G>C

1 paper

NM_016207.4

p.H44_P45insFs

c.132_133insTT

1 paper

NM_016207.4

p.D65N

c.193G>A

1 paper

NM_016207.4

p.H71Splc

c.212+5G>C

2 papers

NM_016207.4

p.D75N

c.223G>A

1 paper

NM_016207.4

p.I102I

c.306T>C

1 paper

NM_016207.4

p.S114Splc

c.342-8A>G

1 paper

NM_016207.4

p.T124S

c.371C>G

1 paper

NM_016207.4

p.E136Q

c.406G>C