Varaico: Literature-Extracted Genetic Variants

Gene:PIN1

PIN1

89 papers

RefSeq Summary

Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated s...

Pfam Domains

WWaa 7–37UCSCWW domain
Rotamaseaa 59–163UCSCPPIC-type PPIASE domain

Gene Aliases

HGNC Name

peptidylprolyl cis/trans isomerase, NIMA-interacting 1

HGNC Alias Symbol

dod

Papers
RefSeq ID
Protein change
DNA change
1–12 of 150 variants
6 papers
NM_006221.4
p.C113S
c.337T>A
6 papers
NM_006221.4
p.C113S
c.338G>C
4 papers
NM_006221.4
p.T152M
c.455C>T
3 papers
NM_006221.4
p.K13N
c.39G>C
3 papers
NM_006221.4
p.Q33Q
c.99G>A
3 papers
NM_006221.4
p.H157Y
c.469C>T
2 papers
NM_006221.4
p.K6R
c.17A>G
2 papers
NM_006221.4
p.K13N
c.39G>T
2 papers
NM_006221.4
p.G20Splc
c.58+64C>T
2 papers
NM_006221.4
p.G20G
c.60C>T
2 papers
NM_006221.4
p.Y23F
c.68A>T
2 papers
NM_006221.4
p.P37T
c.109C>A
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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."