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.G335A

c.1004G>C

Surrounding Variants

2 papers

NM_016207.4

p.G330S

c.988G>A

1 paper

NM_016207.4

p.M326I

c.978G>A

1 paper

NM_016207.4

p.M326I

c.978G>C

1 paper

NM_016207.4

p.M326I

c.978G>T

1 paper

NM_016207.4

p.I354T

c.1061T>C

1 paper

NM_016207.4

p.H316Y

c.946C>T

1 paper

NM_016207.4

p.D315Y

c.943G>T

1 paper

NM_016207.4

p.H307Q

c.921C>G

1 paper

NM_016207.4

p.F305L

c.915C>A

1 paper

NM_016207.4

p.F305L

c.915C>G

1 paper

NM_016207.4

p.F305L

c.913T>C

1 paper

NM_016207.4

p.S273F

c.818C>T