Varaico: Literature-Extracted Genetic Variants

Gene:PPIL1
Variant:p.N102fs

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.N102fs
c.304_305fs
Surrounding Variants
1 paper
NM_016059.5
p.A101delFs
c.302delG
4 papers
NM_016059.5
p.A99T
c.295G>A
3 papers
NM_016059.5
p.T107A
c.319A>G
2 papers
NM_016059.5
p.A101_D106ins2
c.301_318dup18
3 papers
NM_016059.5
p.G109C
c.325G>T
1 paper
NM_016059.5
p.F113_V114insFs
c.338_341dup4
1 paper
NM_016059.5
p.K125E
c.373A>G
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
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