Varaico: Literature-Extracted Genetic Variants

PPIL4

75 papers

RefSeq Summary

This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppress...

Pfam Domains

Pro_isomeraseaa 2–161UCSCCyclophilin type peptidyl-prolyl cis-trans isomerase/CLD

RRM_1aa 242–312UCSCRNA recognition motif

Gene Aliases

HGNC Name

peptidylprolyl isomerase like 4

HGNC Previous Name

peptidylprolyl isomerase (cyclophilin)-like 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_139126.4

p.I66V

c.196A>G

Surrounding Variants

1 paper

NM_139126.4

p.G68Splc

c.203+10T>C

1 paper

NM_139126.4

p.P56H

c.167C>A

1 paper

NM_139126.4

p.R47_D55del0

c.140_163del24

1 paper

NM_139126.4

p.G54D

c.161G>A

1 paper

NM_139126.4

p.I51K

c.152T>A

1 paper

NM_139126.4

p.D48V

c.143A>T

1 paper

NM_139126.4

p.Q46_R47Splc

c.139-2A>G

1 paper

NM_139126.4

p.N44S

c.131A>G

1 paper

NM_139126.4

p.L41R

c.122T>G

1 paper

NM_139126.4

p.C40S

c.119G>C

1 paper

NM_139126.4

p.C40S

c.118T>A

1 paper

NM_139126.4

p.C25_N27Fs

c.74_81delinsCCCCGATFs