Varaico: Literature-Extracted Genetic Variants

Gene:PPID
Variant:p.L302I

PPID

55 papers

RefSeq Summary

The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides a...

Pfam Domains

Pro_isomeraseaa 19–183UCSCCyclophilin type peptidyl-prolyl cis-trans isomerase/CLD

Gene Aliases

HGNC Name

peptidylprolyl isomerase D

HGNC Alias Symbols

CYP-40; CypD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_005038.3
p.L302I
c.904C>A
Surrounding Variants
1 paper
NM_005038.3
p.D303A
c.908A>C
1 paper
NM_005038.3
p.P304A
c.910C>G
1 paper
NM_005038.3
p.K321R
c.962A>G
1 paper
NM_005038.3
p.D329A
c.986A>C
1 paper
NM_005038.3
p.L330P
c.989T>C
1 paper
NM_005038.3
p.Y365fs
c.1093_1094fs
1 paper
NM_005038.3
p.A366T
c.1096G>A
1 paper
NM_005038.3
p.I279V
c.835A>G
1 paper
NM_005038.3
p.N278D
c.832A>G
1 paper
NM_005038.3
p.P270S
c.808C>T
1 paper
NM_005038.3
p.T262_A263delFs
c.786_789del4
1 paper
NM_005038.3
p.A263fs
c.787_788fs
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