Varaico: Literature-Extracted Genetic Variants

Gene:PPIL1
Variant:p.N38K

PPIL1

66 papers

RefSeq Summary

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

Pfam Domains

Pro_isomeraseaa 13–163UCSCCyclophilin type peptidyl-prolyl cis-trans isomerase/CLD

Gene Aliases

HGNC Name

peptidylprolyl isomerase like 1

HGNC Alias Symbol

CYPL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016059.5
p.N38K
c.114C>G
Surrounding Variants
1 paper
NM_016059.5
p.N38K
c.114C>A
2 papers
NM_016059.5
p.C36S
c.107G>C
2 papers
NM_016059.5
p.C36S
c.106T>A
1 paper
NM_016059.5
p.A43S
c.127G>T
3 papers
NM_016059.5
p.P33P
c.99A>T
1 paper
NM_016059.5
p.R44H
c.131G>A
1 paper
NM_016059.5
p.R45*
c.133C>T
1 paper
NM_016059.5
p.G46R
c.136G>C
1 paper
NM_016059.5
p.L25_L27Fs
c.74_81delinsCCCCGATFs
1 paper
NM_016059.5
p.L25fs
c.73_74fs
2 papers
NM_016059.5
p.L25fs
c.73_74fs
1 paper
NM_016059.5
p.H54H
c.162C>T
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