Varaico: Literature-Extracted Genetic Variants

Gene:PERP
Variant:p.F168S

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
Selected Variant
1 paper
NM_022121.5
p.F168S
c.503T>C
Surrounding Variants
1 paper
NM_022121.5
p.P174L
c.521C>T
5 papers
NM_022121.5
p.G156R
c.466G>C
5 papers
NM_022121.5
p.G156R
c.466G>A
1 paper
NM_022121.5
p.G154V
c.461G>T
4 papers
NM_022121.5
p.Y153*
c.459C>G
5 papers
NM_022121.5
p.Y153*
c.459C>A
6 papers
NM_022121.5
p.W151*
c.453G>A
6 papers
NM_022121.5
p.W151*
c.452G>A
1 paper
NM_022121.5
p.P186S
c.556C>T
7 papers
NM_022121.5
p.P143R
c.428C>G
1 paper
NM_022121.5
p.T138A
c.412A>G
1 paper
NM_022121.5
p.V120V
c.360G>A
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