Varaico: Literature-Extracted Genetic Variants

Gene:XPNPEP3
Variant:p.N311_T312delFs

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
8 papers
NM_022098.4
p.N311_T312delFs
c.931_934del4
Surrounding Variants
2 papers
NM_022098.4
p.N311fs
c.931_932fs
1 paper
NM_022098.4
p.G307C
c.919G>T
1 paper
NM_022098.4
p.A299delFs
c.896delC
1 paper
NM_022098.4
p.K285_F286Splc
c.856-2A>G
1 paper
NM_022098.4
p.P276S
c.826C>T
1 paper
NM_022098.4
p.M270I
c.810G>A
1 paper
NM_022098.4
p.M270I
c.810G>C
1 paper
NM_022098.4
p.M270I
c.810G>T
1 paper
NM_022098.4
p.K323_D324Splc
c.970-9T>C
1 paper
NM_022098.4
p.K323_D324Splc
c.970-2A>G
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