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.L701L

c.2103C>T

Surrounding Variants

3 papers

NM_006310.4

p.L701H

c.2102T>A

1 paper

NM_006310.4

p.K715E

c.2143A>G

1 paper

NM_006310.4

p.A716V

c.2147C>T

1 paper

NM_006310.4

p.K719E

c.2155A>G

1 paper

NM_006310.4

p.R726H

c.2177G>A

3 papers

NM_006310.4

p.R726L

c.2177G>T

1 paper

NM_006310.4

p.R726R

c.2178T>A

1 paper

NM_006310.4

p.G735A

c.2204G>C

1 paper

NM_006310.4

p.K768T

c.2303A>C

1 paper

NM_006310.4

p.S801_E802Splc

c.2403+9C>T

1 paper

NM_006310.4

p.R805C

c.2413C>T

1 paper

NM_006310.4

p.S811L

c.2432C>T