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

1–12 of 191 variants

13 papers

NM_006310.4

p.R53Q

c.158G>A

9 papers

NM_006310.4

p.F433C

c.1298T>G

7 papers

NM_006310.4

p.G322D

c.965G>A

6 papers

NM_006310.4

p.P504S

c.1510C>T

4 papers

NM_006310.4

p.H875Y

c.2623C>T

3 papers

NM_006310.4

p.A212P

c.634G>C

3 papers

NM_006310.4

p.E353V

c.1058A>T

3 papers

NM_006310.4

p.N361S

c.1082A>G

3 papers

NM_006310.4

p.L701H

c.2102T>A

3 papers

NM_006310.4

p.R726L

c.2177G>T

2 papers

NM_006310.4

p.M1T

c.2T>C

2 papers

NM_006310.4

p.L3L

c.7C>T