Varaico: Literature-Extracted Genetic Variants

Gene:PPIL1
Variant:p.K125E

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.K125E
c.373A>G
Surrounding Variants
1 paper
NM_016059.5
p.K125Q
c.373A>C
1 paper
NM_016059.5
p.H126D
c.376C>G
1 paper
NM_016059.5
p.H126Q
c.378C>G
1 paper
NM_016059.5
p.H126Q
c.378C>A
3 papers
NM_016059.5
p.T127A
c.379A>G
2 papers
NM_016059.5
p.R131*
c.391C>T
1 paper
NM_016059.5
p.R131L
c.392G>T
6 papers
NM_016059.5
p.R131Q
c.392G>A
1 paper
NM_016059.5
p.F113_V114insFs
c.338_341dup4
1 paper
NM_016059.5
p.G137R
c.409G>C
1 paper
NM_016059.5
p.G137R
c.409G>A
1 paper
NM_016059.5
p.V139A
c.416T>C
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