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.K482_D485delFs

c.1445_1454del10

Surrounding Variants

1 paper

NM_139126.4

p.K482fs

c.1444_1445fs

1 paper

NM_139126.4

p.R478K

c.1433G>A

1 paper

NM_139126.4

p.R476Q

c.1427G>A

1 paper

NM_139126.4

p.R470S

c.1410G>T

1 paper

NM_139126.4

p.R470S

c.1410G>C

1 paper

NM_139126.4

p.E467K

c.1399G>A

1 paper

NM_139126.4

p.D450G

c.1349A>G

2 papers

NM_139126.4

p.R447*

c.1339C>T

1 paper

NM_139126.4

p.R443C

c.1327C>T

1 paper

NM_139126.4

p.Q439L

c.1316A>T

1 paper

NM_139126.4

p.E422G

c.1265A>G

1 paper

NM_139126.4

p.T407A

c.1219A>G