Varaico: Literature-Extracted Genetic Variants

NPEPPS

433 papers

RefSeq Summary

This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplas...

Pfam Domains

Peptidase_M1_Naa 59–245UCSCPeptidase M1 N-terminal domain

Peptidase_M1aa 280–497UCSCPeptidase family M1 domain

ERAP1_Caa 574–889UCSCERAP1-like C-terminal domain

Gene Aliases

HGNC Name

aminopeptidase puromycin sensitive

HGNC Alias Symbols

PSA; MP100

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006310.4

p.W321R

c.961T>A

Surrounding Variants

1 paper

NM_006310.4

p.N320K

c.960C>A

1 paper

NM_006310.4

p.W321delFs

c.961delT

7 papers

NM_006310.4

p.G322D

c.965G>A

1 paper

NM_006310.4

p.G322V

c.965G>T

1 paper

NM_006310.4

p.G316Splc

c.947-1G>A

1 paper

NM_006310.4

p.A315T

c.943G>A

1 paper

NM_006310.4

p.D312D

c.936C>T

1 paper

NM_006310.4

p.I308V

c.922A>G

1 paper

NM_006310.4

p.L307R

c.920T>G

1 paper

NM_006310.4

p.D306N

c.916G>A

1 paper

NM_006310.4

p.K304Q

c.910A>C

1 paper

NM_006310.4

p.L302L

c.904C>T