Varaico: Literature-Extracted Genetic Variants

Gene:XPNPEP3
Variant:p.R75H

XPNPEP3

65 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultim...

Pfam Domains

AMP_Naa 72–203UCSCAminopeptidase P, N-terminal domain
Peptidase_M24aa 253–482UCSCMetallopeptidase family M24

Gene Aliases

HGNC Name

X-prolyl aminopeptidase 3

HGNC Alias Symbols

APP3; NPHPL1; ICP55

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022098.4
p.R75H
c.224G>A
Surrounding Variants
1 paper
NM_022098.4
p.R76G
c.226A>G
1 paper
NM_022098.4
p.E71V
c.212A>T
1 paper
NM_022098.4
p.S81C
c.242C>G
2 papers
NM_022098.4
p.P103S
c.307C>T
1 paper
NM_022098.4
p.S132G
c.394A>G
1 paper
NM_022098.4
p.K142delFs
c.425delA
1 paper
NM_022098.4
p.G61Splc
c.182-165A>T
3 papers
NM_022098.4
p.R155W
c.463C>T
1 paper
NM_022098.4
p.R156*
c.466C>T
1 paper
NM_022098.4
p.V179V
c.537A>T
1 paper
NM_022098.4
p.H190insFs
c.568_569dupCA
1 paper
NM_022098.4
p.A197Splc
c.590-16G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."