Varaico: Literature-Extracted Genetic Variants

ERAP2

119 papers

RefSeq Summary

This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major his...

Pfam Domains

Peptidase_M1_Naa 74–263UCSCPeptidase M1 N-terminal domain

Peptidase_M1aa 298–541UCSCPeptidase family M1 domain

ERAP1_Caa 620–940UCSCERAP1-like C-terminal domain

Gene Aliases

HGNC Name

endoplasmic reticulum aminopeptidase 2

HGNC Alias Symbols

L-RAP; LRAP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022350.5

p.N501fs

c.1501_1502fs

Surrounding Variants

1 paper

NM_022350.5

p.N501insFs

c.1501_1502insCC

1 paper

NM_022350.5

p.N501_S502Splc

c.1503+1G>A

1 paper

NM_022350.5

p.S486R

c.1458C>A

1 paper

NM_022350.5

p.S486R

c.1458C>G

1 paper

NM_022350.5

p.S486R

c.1456A>C

1 paper

NM_022350.5

p.K483N

c.1449G>C

1 paper

NM_022350.5

p.K483N

c.1449G>T

1 paper

NM_022350.5

p.G458V

c.1373G>T

1 paper

NM_022350.5

p.I446T

c.1337T>C

1 paper

NM_022350.5

p.P443L

c.1328C>T

3 papers

NM_022350.5

p.L411R

c.1232T>G

22 papers

NM_022350.5

p.K392N

c.1176G>C