Varaico: Literature-Extracted Genetic Variants

LNPEP

116 papers

RefSeq Summary

This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal se...

Pfam Domains

Peptidase_M1_Naa 173–358UCSCPeptidase M1 N-terminal domain

Peptidase_M1aa 392–610UCSCPeptidase family M1 domain

ERAP1_Caa 689–1009UCSCERAP1-like C-terminal domain

Gene Aliases

HGNC Name

leucyl and cystinyl aminopeptidase

HGNC Alias Symbols

PLAP; P-LAP; IRAP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 121 variants

4 papers

NM_005575.3

p.A763T

c.2287G>A

3 papers

NM_005575.3

p.M493V

c.1477A>G

2 papers

NM_005575.3

p.P38R

c.113C>G

2 papers

NM_005575.3

p.D42A

c.125A>C

2 papers

NM_005575.3

p.K143K

c.429A>G

2 papers

NM_005575.3

p.I166M

c.498C>G

2 papers

NM_005575.3

p.P174S

c.520C>T

2 papers

NM_005575.3

p.G428E

c.1283G>A

2 papers

NM_005575.3

p.A429G

c.1286C>G

2 papers

NM_005575.3

p.M430K

c.1289T>A

2 papers

NM_005575.3

p.E431A

c.1292A>C

2 papers

NM_005575.3

p.I963V

c.2887A>G