Varaico: Literature-Extracted Genetic Variants

Gene:PPIL1
Variant:p.H54H

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.H54H
c.162C>T
Surrounding Variants
1 paper
NM_016059.5
p.H54Q
c.162C>G
1 paper
NM_016059.5
p.H54Q
c.162C>A
2 papers
NM_016059.5
p.R55K
c.164G>A
1 paper
NM_016059.5
p.Y47_R55del0
c.140_163del24
1 paper
NM_016059.5
p.F60V
c.178T>G
1 paper
NM_016059.5
p.G46R
c.136G>C
1 paper
NM_016059.5
p.M61_Q63del0
c.182_187del6
1 paper
NM_016059.5
p.G64R
c.190G>C
1 paper
NM_016059.5
p.G64R
c.190G>A
1 paper
NM_016059.5
p.R45*
c.133C>T
1 paper
NM_016059.5
p.R44H
c.131G>A
1 paper
NM_016059.5
p.A43S
c.127G>T
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