Varaico: Literature-Extracted Genetic Variants

PAPOLA

129 papers

RefSeq Summary

The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced...

Pfam Domains

PAP_NTPaseaa 21–214UCSCPoly(A) polymerase nucleotidyltransferase domain

PAP_centralaa 219–364UCSCPoly(A) polymerase central domain

PAP_RNA-bindaa 366–436UCSCPoly(A) polymerase predicted RNA binding domain

PAP_RNA-bindaa 423–508UCSCPoly(A) polymerase predicted RNA binding domain

Gene Aliases

HGNC Name

poly(A) polymerase alpha

HGNC Alias Symbol

PAP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032632.5

p.E55Q

c.163G>C

Surrounding Variants

1 paper

NM_032632.5

p.E55V

c.164A>T

1 paper

NM_032632.5

p.R60H

c.179G>A

1 paper

NM_032632.5

p.V37V

c.111A>T

1 paper

NM_032632.5

p.V37G

c.110T>G

1 paper

NM_032632.5

p.A29S

c.85G>T

1 paper

NM_032632.5

p.I22I

c.66T>A

1 paper

NM_032632.5

p.G21G

c.63C>G

1 paper

NM_032632.5

p.Y20*

c.60T>A

1 paper

NM_032632.5

p.Q14*

c.40C>T

1 paper

NM_032632.5

p.Q8*

c.22C>T

1 paper

NM_032632.5

p.P4P

c.12A>G

1 paper

NM_032632.5

p.F3Splc

c.9-1G>A