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.G428E

c.1283G>A

Surrounding Variants

1 paper

NM_005575.3

p.G428A

c.1283G>C

1 paper

NM_005575.3

p.A429E

c.1286C>A

2 papers

NM_005575.3

p.A429G

c.1286C>G

1 paper

NM_005575.3

p.A427_G428del2

c.1279_1283del6

2 papers

NM_005575.3

p.M430K

c.1289T>A

1 paper

NM_005575.3

p.M430I

c.1290G>A

1 paper

NM_005575.3

p.M430I

c.1290G>C

1 paper

NM_005575.3

p.M430I

c.1290G>T

2 papers

NM_005575.3

p.E431A

c.1292A>C

1 paper

NM_005575.3

p.E431D

c.1293A>C

1 paper

NM_005575.3

p.E431D

c.1293A>T

1 paper

NM_005575.3

p.R439L

c.1316G>T