Varaico: Literature-Extracted Genetic Variants

Gene:PPIL2
Variant:p.R427H

PPIL2

112 papers

RefSeq Summary

This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, imm...

Pfam Domains

Pro_isomeraseaa 281–433UCSCCyclophilin type peptidyl-prolyl cis-trans isomerase/CLD

Gene Aliases

HGNC Name

peptidylprolyl isomerase like 2

HGNC Alias Symbols

UBOX7; CYC4; Cyp-60

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014337.4
p.R427H
c.1280G>A
Surrounding Variants
1 paper
NM_014337.4
p.V406A
c.1217T>C
1 paper
NM_014337.4
p.V406I
c.1216G>A
1 paper
NM_014337.4
p.V400A
c.1199T>C
1 paper
NM_014337.4
p.G469E
c.1406G>A
1 paper
NM_014337.4
p.Q474E
c.1420C>G
1 paper
NM_014337.4
p.K482M
c.1445A>T
1 paper
NM_014337.4
p.E494V
c.1481A>T
1 paper
NM_014337.4
p.H394N
c.1180C>A
1 paper
NM_014337.4
p.R385H
c.1154G>A
1 paper
NM_014337.4
p.T383M
c.1148C>T
1 paper
NM_014337.4
p.G372_S375delFs
c.1115_1125del11
1 paper
NM_014337.4
p.R363P
c.1088G>C
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