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

8 papers

NM_022350.5

p.L669Q

c.2006T>A

Surrounding Variants

1 paper

NM_022350.5

p.V633I

c.1897G>A

1 paper

NM_022350.5

p.Y630*

c.1890C>A

1 paper

NM_022350.5

p.Y630*

c.1890C>G

1 paper

NM_022350.5

p.L612Q

c.1835T>A

1 paper

NM_022350.5

p.L612insFs

c.1836dupG

1 paper

NM_022350.5

p.L612fs

c.1834_1835fs

1 paper

NM_022350.5

p.E573delFs

c.1717delG

1 paper

NM_022350.5

p.F508del1

c.1522_1523delTTT

1 paper

NM_022350.5

p.C503S

c.1507T>A

1 paper

NM_022350.5

p.D678Y

c.2032G>T

1 paper

NM_022350.5

p.D682V

c.2045A>T

1 paper

NM_022350.5

p.A695delFs

c.2083delG