Varaico: Literature-Extracted Genetic Variants

Gene:PPIH
Variant:p.F14L

PPIH

24 papers

RefSeq Summary

The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides a...

Pfam Domains

Pro_isomeraseaa 14–176UCSCCyclophilin type peptidyl-prolyl cis-trans isomerase/CLD

Gene Aliases

HGNC Name

peptidylprolyl isomerase H

HGNC Alias Symbols

USA-CYP; CYP-20; SnuCyp-20; CYPH; MGC5016

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006347.4
p.F14L
c.42C>A
Surrounding Variants
1 paper
NM_006347.4
p.F14L
c.42C>G
1 paper
NM_006347.4
p.F14L
c.40T>C
1 paper
NM_006347.4
p.D16N
c.46G>A
1 paper
NM_006347.4
p.V13M
c.37G>A
1 paper
NM_006347.4
p.P8S
c.22C>T
1 paper
NM_006347.4
p.Q22H
c.66G>C
1 paper
NM_006347.4
p.Q22_E23Splc
c.67-11G>A
1 paper
NM_006347.4
p.H66Y
c.196C>T
1 paper
NM_006347.4
p.N81_G82Splc
c.244-2A>G
1 paper
NM_006347.4
p.G82A
c.245G>C
1 paper
NM_006347.4
p.P94S
c.280C>T
1 paper
NM_006347.4
p.F100L
c.300T>A
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