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_001330257.2

p.M237T

c.710T>C

Surrounding Variants

1 paper

NM_006310.4

p.M241I

c.723G>A

1 paper

NM_006310.4

p.M241I

c.723G>C

1 paper

NM_006310.4

p.M241I

c.723G>T

1 paper

NM_006310.4

p.S242C

c.725C>G

1 paper

NM_006310.4

p.V240I

c.718G>A

1 paper

NM_006310.4

p.T238T

c.714A>T

1 paper

NM_006310.4

p.Y244N

c.730T>A

1 paper

NM_001330257.2

p.L241L

c.723G>A

1 paper

NM_006310.4

p.V250V

c.750G>C

1 paper

NM_006310.4

p.L230L

c.690A>G

1 paper

NM_006310.4

p.Y253H

c.757T>C

1 paper

NM_006310.4

p.F255L

c.763T>C