Varaico: Literature-Extracted Genetic Variants

Gene:PPIL1
Variant:p.G71Splc

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.G71Splc
c.212-2A>G
Surrounding Variants
1 paper
NM_016059.5
p.Y78C
c.233A>G
1 paper
NM_016059.5
p.Q81*
c.241C>T
1 paper
NM_016059.5
p.K80_Q81delins
c.240_241delinsTG
2 papers
NM_016059.5
p.F82S
c.245T>C
1 paper
NM_016059.5
p.F82Y
c.245T>A
1 paper
NM_016059.5
p.E83Q
c.247G>C
1 paper
NM_016059.5
p.E83A
c.248A>C
1 paper
NM_016059.5
p.D84N
c.250G>A
1 paper
NM_016059.5
p.E85K
c.253G>A
1 paper
NM_016059.5
p.E85A
c.254A>C
1 paper
NM_016059.5
p.H87L
c.260A>T
2 papers
NM_016059.5
p.G94Splc
c.280+1G>A
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