Varaico: Literature-Extracted Genetic Variants

Gene:PAPOLB
Variant:p.L140insFs

PAPOLB

40 papers

Pfam Domains

PAP_NTPaseaa 22–215UCSCPoly(A) polymerase nucleotidyltransferase domain
PAP_centralaa 220–365UCSCPoly(A) polymerase central domain
PAP_RNA-bindaa 367–436UCSCPoly(A) polymerase predicted RNA binding domain

Gene Aliases

HGNC Name

poly(A) polymerase beta

HGNC Alias Symbol

PAPT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020144.5
p.L140insFs
c.419dupT
Surrounding Variants
1 paper
NM_020144.5
p.L138L
c.412C>T
1 paper
NM_020144.5
p.F130delFs
c.389delA
1 paper
NM_020144.5
p.F130fs
c.388_389fs
2 papers
NM_020144.5
p.V120I
c.358G>A
1 paper
NM_020144.5
p.D114A
c.341A>C
1 paper
NM_020144.5
p.E181K
c.541G>A
1 paper
NM_020144.5
p.T100M
c.299C>T
1 paper
NM_020144.5
p.L191H
c.572T>A
2 papers
NM_020144.5
p.R206W
c.616C>T
1 paper
NM_020144.5
p.V207A
c.620T>C
2 papers
NM_020144.5
p.D209H
c.625G>C
1 paper
NM_020144.5
p.D209N
c.625G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."