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.K173E

c.517A>G

Surrounding Variants

1 paper

NM_016207.4

p.A170V

c.509C>T

1 paper

NM_016207.4

p.A170P

c.508G>C

1 paper

NM_016207.4

p.M164R

c.491T>G

1 paper

NM_016207.4

p.A163D

c.488C>A

1 paper

NM_016207.4

p.A163_M164delins

c.487_490delinsA

1 paper

NM_016207.4

p.G161R

c.481G>A

1 paper

NM_016207.4

p.G161R

c.481G>C

1 paper

NM_016207.4

p.T137A

c.409A>G

1 paper

NM_016207.4

p.E136Q

c.406G>C

1 paper

NM_016207.4

p.T124S

c.371C>G

1 paper

NM_016207.4

p.S114Splc

c.342-8A>G

1 paper

NM_016207.4

p.S181T

c.541T>A