Varaico: Literature-Extracted Genetic Variants

Gene:PIN1
Variant:p.F139L

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.F139L
c.417T>A
Surrounding Variants
1 paper
NM_006221.4
p.F139L
c.417T>G
1 paper
NM_006221.4
p.F139S
c.416T>C
1 paper
NM_006221.4
p.F139L
c.415T>C
1 paper
NM_006221.4
p.S138A
c.412T>G
1 paper
NM_006221.4
p.D136V
c.407A>T
1 paper
NM_006221.4
p.T143M
c.428C>T
1 paper
NM_006221.4
p.E135G
c.404A>G
1 paper
NM_006221.4
p.G144W
c.430G>T
1 paper
NM_006221.4
p.E135K
c.403G>A
1 paper
NM_006221.4
p.G144E
c.431G>A
1 paper
NM_006221.4
p.F134L
c.402T>A
1 paper
NM_006221.4
p.F134L
c.402T>G
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