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.S991fs

c.2971_2972fs

Surrounding Variants

1 paper

NM_005575.3

p.N989_Q990delFs

c.2967_2970del4

1 paper

NM_005575.3

p.R998C

c.2992C>T

1 paper

NM_005575.3

p.R998H

c.2993G>A

1 paper

NM_005575.3

p.W1023*

c.3068G>A

1 paper

NM_005575.3

p.W1023*

c.3069G>A

1 paper

NM_005575.3

p.W1024*

c.3071G>A

1 paper

NM_005575.3

p.W1024*

c.3072G>A

1 paper

NM_005575.3

p.L1025delFs

c.3073delC

1 paper

NM_005575.3

p.S975_T976delFs

c.2925_2928del4

2 papers

NM_005575.3

p.I963V

c.2887A>G

1 paper

NM_005575.3

p.G959E

c.2876G>A

1 paper

NM_005575.3

p.G937fs

c.2809_2810fs