Varaico: Literature-Extracted Genetic Variants

Gene:PPIL2
Variant:p.I320M

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
1 paper
NM_014337.4
p.I320M
c.960C>G
Surrounding Variants
1 paper
NM_014337.4
p.G318insFs
c.952dupG
1 paper
NM_014337.4
p.D317N
c.949G>A
1 paper
NM_014337.4
p.R326W
c.976C>T
1 paper
NM_014337.4
p.K312del1
c.934_935delAAG
1 paper
NM_014337.4
p.I308F
c.922A>T
1 paper
NM_014337.4
p.C304Y
c.911G>A
1 paper
NM_014337.4
p.D334N
c.1000G>A
1 paper
NM_014337.4
p.G341S
c.1021G>A
1 paper
NM_014337.4
p.L293P
c.878T>C
1 paper
NM_014337.4
p.Y273_Q274insFs
c.819_820insT
1 paper
NM_014337.4
p.R272H
c.815G>A
1 paper
NM_014337.4
p.W346S
c.1037G>C
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