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.G353R

c.1057G>C

Surrounding Variants

1 paper

NM_022894.4

p.G353R

c.1057G>A

2 papers

NM_022894.4

p.L351F

c.1051C>T

1 paper

NM_022894.4

p.P363R

c.1088C>G

1 paper

NM_022894.4

p.Q368Q

c.1104A>G

2 papers

NM_022894.4

p.R371Splc

c.1112+4C>T

1 paper

NM_022894.4

p.S381T

c.1141T>A

1 paper

NM_022894.4

p.I314L

c.940A>T

1 paper

NM_022894.4

p.S306*

c.917C>A

1 paper

NM_022894.4

p.S306*

c.917C>G

1 paper

NM_022894.4

p.E279D

c.837A>C

1 paper

NM_022894.4

p.E279D

c.837A>T

1 paper

NM_022894.4

p.F271L

c.813C>A