Varaico: Literature-Extracted Genetic Variants

Gene:PPIL3
Variant:p.M1_S2Splc

PPIL3

51 papers

RefSeq Summary

This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalys...

Pfam Domains

Pro_isomeraseaa 2–154UCSCCyclophilin type peptidyl-prolyl cis-trans isomerase/CLD

Gene Aliases

HGNC Name

peptidylprolyl isomerase like 3

HGNC Alias Symbol

CyPJ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_130906.3
p.M1_S2Splc
c.4-2A>G
Surrounding Variants
1 paper
NM_130906.3
p.T7A
c.19A>G
1 paper
NM_130906.3
p.D11E
c.33T>A
1 paper
NM_130906.3
p.F17L
c.49T>C
1 paper
NM_130906.3
p.N38S
c.113A>G
1 paper
NM_130906.3
p.G39C
c.115G>T
1 paper
NM_130906.3
p.C40S
c.118T>A
1 paper
NM_130906.3
p.C40S
c.119G>C
1 paper
NM_130906.3
p.K47K
c.141G>A
1 paper
NM_130906.3
p.V51D
c.152T>A
1 paper
NM_130906.3
p.G54E
c.161G>A
1 paper
NM_130906.3
p.G54G
c.162A>C
1 paper
NM_130906.3
p.K47_D55del0
c.140_163del24
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