Varaico: Literature-Extracted Genetic Variants

PAPOLG

48 papers

RefSeq Summary

This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized ...

Pfam Domains

PAP_NTPaseaa 20–213UCSCPoly(A) polymerase nucleotidyltransferase domain

PAP_centralaa 218–363UCSCPoly(A) polymerase central domain

PAP_RNA-bindaa 365–432UCSCPoly(A) polymerase predicted RNA binding domain

PAP_RNA-bindaa 421–506UCSCPoly(A) polymerase predicted RNA binding domain

Gene Aliases

HGNC Name

poly(A) polymerase gamma

HGNC Alias Symbol

FLJ12972

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022894.4

p.F51_E52insFs

c.153_154insAC

Surrounding Variants

1 paper

NM_022894.4

p.N58K

c.174C>A

1 paper

NM_022894.4

p.N58K

c.174C>G

1 paper

NM_022894.4

p.D43E

c.129C>A

1 paper

NM_022894.4

p.D43E

c.129C>G

1 paper

NM_022894.4

p.R60Splc

c.179+1G>A

2 papers

NM_022894.4

p.V62G

c.185T>G

1 paper

NM_022894.4

p.A6Splc

c.17+96C>T

1 paper

NM_022894.4

p.A6Splc

c.17+1G>T

1 paper

NM_022894.4

p.E3ins1

c.7_8insTTA

1 paper

NM_022894.4

p.G110R

c.328G>A

1 paper

NM_022894.4

p.G110R

c.328G>C

1 paper

NM_022894.4

p.A115A

c.345A>G