Varaico: Literature-Extracted Genetic Variants

Gene:PERP

PERP

58 papers

Pfam Domains

PMP22_Claudinaa 14–169UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

p53 apoptosis effector related to PMP22

HGNC Alias Symbols

PIGPC1; dJ496H19.1; KCP1; THW; KRTCAP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
7 papers
NM_022121.5
p.P143R
c.428C>G
6 papers
NM_022121.5
p.W151*
c.452G>A
6 papers
NM_022121.5
p.W151*
c.453G>A
5 papers
NM_022121.5
p.Y153*
c.459C>A
5 papers
NM_022121.5
p.G156R
c.466G>C
5 papers
NM_022121.5
p.G156R
c.466G>A
4 papers
NM_022121.5
p.S38fs
c.112_113fs
4 papers
NM_022121.5
p.G59R
c.175G>C
4 papers
NM_022121.5
p.G59R
c.175G>A
4 papers
NM_022121.5
p.Y153*
c.459C>G
2 papers
NM_022121.5
p.L30P
c.89T>C
2 papers
NM_022121.5
p.S38delFs
c.112delA
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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."