Varaico: Literature-Extracted Genetic Variants

Gene:XPNPEP3
Variant:p.G453C

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
9 papers
NM_022098.4
p.G453C
c.1357G>T
Surrounding Variants
2 papers
NM_022098.4
p.G453S
c.1357G>A
1 paper
NM_022098.4
p.G453Splc
c.1357+19A>G
2 papers
NM_022098.4
p.H421D
c.1261C>G
3 papers
NM_022098.4
p.R415Q
c.1244G>A
1 paper
NM_022098.4
p.K412_A413Splc
c.1236+271A>G
1 paper
NM_022098.4
p.S484L
c.1451C>T
1 paper
NM_022098.4
p.K412_A413Splc
c.1236+72C>G
1 paper
NM_022098.4
p.P493A
c.1477C>G
1 paper
NM_022098.4
p.I405delFs
c.1215delT
1 paper
NM_022098.4
p.Y385insFs
c.1153dupT
1 paper
NM_022098.4
p.A355V
c.1064C>T
1 paper
NM_022098.4
p.R352Splc
c.1056-1459C>T
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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."