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

1–12 of 53 variants

2 papers

NM_139126.4

p.G132S

c.394G>A

2 papers

NM_139126.4

p.T159M

c.476C>T

2 papers

NM_139126.4

p.T182I

c.545C>T

2 papers

NM_139126.4

p.L223F

c.667C>T

2 papers

NM_139126.4

p.R447*

c.1339C>T

1 paper

NM_139126.4

p.Y17H

c.49T>C

1 paper

NM_139126.4

p.A24T

c.70G>A

1 paper

NM_139126.4

p.C25_N27Fs

c.74_81delinsCCCCGATFs

1 paper

NM_139126.4

p.C40S

c.118T>A

1 paper

NM_139126.4

p.C40S

c.119G>C

1 paper

NM_139126.4

p.L41R

c.122T>G

1 paper

NM_139126.4

p.N44S

c.131A>G