Varaico: Literature-Extracted Genetic Variants

Gene:PPIL1
Variant:p.Q10*

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
2 papers
NM_016059.5
p.Q10*
c.28C>T
Surrounding Variants
1 paper
NM_016059.5
p.P11S
c.31C>T
1 paper
NM_016059.5
p.P11A
c.31C>G
1 paper
NM_016059.5
p.N13S
c.38A>G
1 paper
NM_016059.5
p.P5S
c.13C>T
1 paper
NM_016059.5
p.L16W
c.47T>G
1 paper
NM_016059.5
p.A2insFs
c.6dupG
1 paper
NM_016059.5
p.Q10_E17delFs
c.28_49del22
2 papers
NM_016059.5
p.L25fs
c.73_74fs
1 paper
NM_016059.5
p.L25fs
c.73_74fs
1 paper
NM_016059.5
p.L25_L27Fs
c.74_81delinsCCCCGATFs
3 papers
NM_016059.5
p.P33P
c.99A>T
2 papers
NM_016059.5
p.C36S
c.106T>A
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