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

4 papers

NM_005575.3

p.A763T

c.2287G>A

Surrounding Variants

1 paper

NM_005575.3

p.A749T

c.2245G>A

1 paper

NM_005575.3

p.L787_A788insC

c.2359_2363ins3

1 paper

NM_005575.3

p.G740Splc

c.2219+553G>A

1 paper

NM_005575.3

p.L731F

c.2191C>T

1 paper

NM_005575.3

p.N730H

c.2188A>C

1 paper

NM_005575.3

p.W709L

c.2126G>T

1 paper

NM_005575.3

p.G679Splc

c.2036-7C>A

1 paper

NM_005575.3

p.V792_T793Splc

c.2377-826A>G

1 paper

NM_005575.3

p.Q800*

c.2398C>T

1 paper

NM_005575.3

p.S854I

c.2561G>T

1 paper

NM_005575.3

p.Y658H

c.1972T>C

1 paper

NM_005575.3

p.W652*

c.1956G>A