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.D207N

c.619G>A

Surrounding Variants

1 paper

NM_022894.4

p.G202Splc

c.605-179T>C

1 paper

NM_022894.4

p.R198L

c.593G>T

1 paper

NM_022894.4

p.L192F

c.574C>T

1 paper

NM_022894.4

p.S187A

c.559T>G

1 paper

NM_022894.4

p.R171insFs

c.512_513insGC

1 paper

NM_022894.4

p.E164_I165Splc

c.492+3A>C

1 paper

NM_022894.4

p.F271L

c.811T>C

1 paper

NM_022894.4

p.F271L

c.813C>A

1 paper

NM_022894.4

p.F271L

c.813C>G

1 paper

NM_022894.4

p.E279D

c.837A>C

1 paper

NM_022894.4

p.E279D

c.837A>T

2 papers

NM_022894.4

p.V123insFs

c.367_368insT