Varaico: Literature-Extracted Genetic Variants

Gene:PIN1
Variant:p.C57S

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.C57S
c.170G>C
Surrounding Variants
1 paper
NM_006221.4
p.C57S
c.169T>A
1 paper
NM_006221.4
p.H59N
c.175C>A
1 paper
NM_006221.4
p.H59L
c.176A>T
1 paper
NM_006221.4
p.H59Q
c.177C>A
1 paper
NM_006221.4
p.H59Q
c.177C>G
1 paper
NM_006221.4
p.V55I
c.163G>A
1 paper
NM_006221.4
p.R54K
c.161G>A
1 paper
NM_006221.4
p.A53T
c.157G>A
1 paper
NM_006221.4
p.E51G
c.152A>G
1 paper
NM_006221.4
p.H64Y
c.190C>T
1 paper
NM_006221.4
p.H64P
c.191A>C
1 paper
NM_006221.4
p.S65T
c.194G>C
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