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

2 papers

NM_006310.4

p.I333V

c.997A>G

Surrounding Variants

1 paper

NM_006310.4

p.K336N

c.1008A>T

1 paper

NM_006310.4

p.R327Splc

c.981-3C>T

1 paper

NM_006310.4

p.S340A

c.1018T>G

1 paper

NM_006310.4

p.W345L

c.1034G>T

1 paper

NM_006310.4

p.E353A

c.1058A>C

3 papers

NM_006310.4

p.E353V

c.1058A>T

1 paper

NM_006310.4

p.L354L

c.1062C>T

3 papers

NM_006310.4

p.N361S

c.1082A>G

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.W321R

c.961T>A

1 paper

NM_006310.4

p.N320K

c.960C>A