Varaico: Literature-Extracted Genetic Variants

Gene:PPID
Variant:p.H146delFs

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
3 papers
NM_005038.3
p.H146delFs
c.437_438delAT
Surrounding Variants
2 papers
NM_005038.3
p.H146fs
c.436_437fs
2 papers
NM_005038.3
p.H146fs
c.436_437fs
1 paper
NM_005038.3
p.L162S
c.485T>C
1 paper
NM_005038.3
p.S119I
c.356G>T
2 papers
NM_005038.3
p.V177I
c.529G>A
1 paper
NM_005038.3
p.E180V
c.539A>T
1 paper
NM_005038.3
p.G191fs
c.571_572fs
1 paper
NM_005038.3
p.D196V
c.587A>T
1 paper
NM_005038.3
p.D196A
c.587A>C
1 paper
NM_005038.3
p.D200A
c.599A>C
1 paper
NM_005038.3
p.D204A
c.611A>C
1 paper
NM_005038.3
p.E207A
c.620A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."