Varaico: Literature-Extracted Genetic Variants

Gene:XPNPEP3

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
1–12 of 66 variants
9 papers
NM_022098.4
p.G453C
c.1357G>T
8 papers
NM_022098.4
p.N311_T312delFs
c.931_934del4
5 papers
NM_022098.4
p.Q241fs
c.721_722fs
4 papers
NM_022098.4
p.I240insFs
c.719_720insA
3 papers
NM_022098.4
p.R155W
c.463C>T
3 papers
NM_022098.4
p.R415Q
c.1244G>A
2 papers
NM_022098.4
p.P103S
c.307C>T
2 papers
NM_022098.4
p.A212T
c.634G>A
2 papers
NM_022098.4
p.R254L
c.761G>T
2 papers
NM_022098.4
p.Q256*
c.766C>T
2 papers
NM_022098.4
p.N311fs
c.931_932fs
2 papers
NM_022098.4
p.H421D
c.1261C>G
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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."