Varaico: Literature-Extracted Genetic Variants

Gene:PIN1
Variant:p.C113S

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
6 papers
NM_006221.4
p.C113S
c.337T>A
Surrounding Variants
6 papers
NM_006221.4
p.C113S
c.338G>C
1 paper
NM_006221.4
p.C113*
c.339C>A
1 paper
NM_006221.4
p.D112N
c.334G>A
1 paper
NM_006221.4
p.F110S
c.329T>C
1 paper
NM_006221.4
p.K117R
c.350A>G
1 paper
NM_006221.4
p.A118V
c.353C>T
1 paper
NM_006221.4
p.S105F
c.314C>T
1 paper
NM_006221.4
p.D121G
c.362A>G
1 paper
NM_006221.4
p.E104K
c.310G>A
1 paper
NM_006221.4
p.A124T
c.370G>A
1 paper
NM_006221.4
p.D102Y
c.304G>T
1 paper
NM_006221.4
p.A124S
c.370G>T
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