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.F496L

c.1486T>C

Surrounding Variants

1 paper

NM_005575.3

p.F496L

c.1488C>A

1 paper

NM_005575.3

p.F496L

c.1488C>G

3 papers

NM_005575.3

p.M493V

c.1477A>G

1 paper

NM_005575.3

p.G488D

c.1463G>A

1 paper

NM_005575.3

p.E487D

c.1461A>C

1 paper

NM_005575.3

p.E487D

c.1461A>T

1 paper

NM_005575.3

p.E487Q

c.1459G>C

1 paper

NM_005575.3

p.S506C

c.1517C>G

1 paper

NM_005575.3

p.D482insFs

c.1444_1445insC

1 paper

NM_005575.3

p.S507_Y508Splc

c.1522-18C>T

1 paper

NM_005575.3

p.A514T

c.1540G>A

1 paper

NM_005575.3

p.M519T

c.1556T>C