Varaico: Literature-Extracted Genetic Variants

Gene:PNLDC1
Variant:p.N128H

PNLDC1

113 papers

Pfam Domains

CAF1aa 10–362UCSCCAF1 family ribonuclease

Gene Aliases

HGNC Name

PARN like ribonuclease domain containing exonuclease 1

HGNC Alias Symbols

FLJ40240; dJ195P10.2; Trimmer

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001271862.2
p.N128H
c.382A>C
Surrounding Variants
1 paper
NM_001271862.2
p.K127delFs
c.381delA
1 paper
NM_001271862.2
p.L126_K127delFs
c.378_379delCA
2 papers
NM_001271862.2
p.M133T
c.398T>C
1 paper
NM_001271862.2
p.E135_E136del2
c.403_407del6
1 paper
NM_001271862.2
p.H143_I145del3
c.427_434del9
1 paper
NM_001271862.2
p.N149_W150del1
c.447_449delCTG
1 paper
NM_001271862.2
p.W150*
c.449G>A
1 paper
NM_001271862.2
p.W150*
c.450G>A
1 paper
NM_001271862.2
p.R153C
c.457C>T
1 paper
NM_001271862.2
p.R153L
c.458G>T
1 paper
NM_001271862.2
p.K124ins1
c.371_372insACA
1 paper
NM_001271862.2
p.V112delFs
c.335_336delTT
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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."