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

Selected Variant

1 paper

NM_005575.3

p.Y129delFs

c.385_386delTA

Surrounding Variants

1 paper

NM_005575.3

p.Y129delFs

c.386delA

1 paper

NM_005575.3

p.A115V

c.344C>T

1 paper

NM_175920.4

p.K129delFs

c.386delA

NM_005575.3

p.K143delFs

c.428delA

1 paper

NM_175920.4

p.K129delFs

c.385_386delAA

NM_005575.3

p.K143delFs

c.427_428delAA

1 paper

NM_005575.3

p.K143fs

c.427_428fs

1 paper

NM_005575.3

p.K143I

c.428A>T

2 papers

NM_005575.3

p.K143K

c.429A>G

1 paper

NM_005575.3

p.N145T

c.434A>C

1 paper

NM_005575.3

p.N145K

c.435C>A

1 paper

NM_005575.3

p.N145K

c.435C>G

1 paper

NM_175920.4

p.N143delFs

c.428delA

1 paper

NM_175920.4

p.N143delFs

c.427_428delAA