Varaico: Literature-Extracted Genetic Variants

Gene:XPNPEP3
Variant:p.A212T

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
2 papers
NM_022098.4
p.A212T
c.634G>A
Surrounding Variants
1 paper
NM_022098.4
p.A212P
c.634G>C
1 paper
NM_022098.4
p.H211insFs
c.631_632insA
1 paper
NM_022098.4
p.P209S
c.625C>T
1 paper
NM_022098.4
p.D205D
c.615C>T
1 paper
NM_022098.4
p.M201delFs
c.603delG
1 paper
NM_022098.4
p.A197Splc
c.590-16G>A
4 papers
NM_022098.4
p.I240insFs
c.719_720insA
5 papers
NM_022098.4
p.Q241fs
c.721_722fs
1 paper
NM_022098.4
p.R242H
c.725G>A
1 paper
NM_022098.4
p.R244delFs
c.732delG
1 paper
NM_022098.4
p.R244Q
c.731G>A
1 paper
NM_022098.4
p.P249S
c.745C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."