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.I136N

c.407T>A

Surrounding Variants

2 papers

NM_139126.4

p.G132S

c.394G>A

1 paper

NM_139126.4

p.E141A

c.422A>C

1 paper

NM_139126.4

p.G113_E114insFs

c.338_341dup4

1 paper

NM_139126.4

p.R155S

c.465G>T

2 papers

NM_139126.4

p.T159M

c.476C>T

2 papers

NM_139126.4

p.T182I

c.545C>T

1 paper

NM_139126.4

p.R183S

c.549G>T

1 paper

NM_139126.4

p.R183S

c.549G>C

1 paper

NM_139126.4

p.R190*

c.568C>T

1 paper

NM_139126.4

p.R190L

c.569G>T

2 papers

NM_139126.4

p.L223F

c.667C>T

1 paper

NM_139126.4

p.K89fs

c.265_266fs