Varaico: Literature-Extracted Genetic Variants

Gene:PIN1
Variant:p.E12Q

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
Selected Variant
1 paper
NM_006221.4
p.E12Q
c.34G>C
Surrounding Variants
1 paper
NM_006221.4
p.E12A
c.35A>C
1 paper
NM_006221.4
p.E12G
c.35A>G
1 paper
NM_006221.4
p.W11L
c.32G>T
1 paper
NM_006221.4
p.K13E
c.37A>G
3 papers
NM_006221.4
p.K13N
c.39G>C
1 paper
NM_006221.4
p.G10A
c.29G>C
2 papers
NM_006221.4
p.K13N
c.39G>T
1 paper
NM_006221.4
p.R14L
c.41G>T
1 paper
NM_006221.4
p.P8P
c.24G>T
1 paper
NM_006221.4
p.P8A
c.22C>G
1 paper
NM_006221.4
p.S16T
c.47G>C
1 paper
NM_006221.4
p.L7V
c.19C>G
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