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.A4insFs

c.11dupC

Surrounding Variants

1 paper

NM_006310.4

p.A4G

c.11C>G

1 paper

NM_006310.4

p.A4A

c.12A>C

2 papers

NM_006310.4

p.L3L

c.7C>T

1 paper

NM_006310.4

p.A5P

c.13G>C

1 paper

NM_006310.4

p.M1_W2insFs

c.3_4insA

2 papers

NM_006310.4

p.M1T

c.2T>C

1 paper

NM_006310.4

p.M1delFs

c.2delT

1 paper

NM_006310.4

p.L14Q

c.41T>A

1 paper

NM_006310.4

p.L17P

c.50T>C

1 paper

NM_006310.4

p.L17R

c.50T>G

1 paper

NM_006310.4

p.P23_L24insFs

c.69_70insC

1 paper

NM_006310.4

p.V28V

c.84C>T