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

2 papers

NM_005575.3

p.D42A

c.125A>C

Surrounding Variants

2 papers

NM_005575.3

p.P38R

c.113C>G

1 paper

NM_005575.3

p.R52L

c.155G>T

1 paper

NM_005575.3

p.K32E

c.94A>G

1 paper

NM_005575.3

p.K32*

c.94A>T

1 paper

NM_005575.3

p.L54delFs

c.160delC

1 paper

NM_005575.3

p.L54fs

c.160_161fs

1 paper

NM_005575.3

p.E60V

c.179A>T

1 paper

NM_005575.3

p.S86P

c.256T>C

1 paper

NM_005575.3

p.D100V

c.299A>T

1 paper

NM_005575.3

p.A115V

c.344C>T

1 paper

NM_005575.3

p.Y129delFs

c.385_386delTA

1 paper

NM_005575.3

p.Y129delFs

c.386delA