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.A695delFs

c.2083delG

Surrounding Variants

1 paper

NM_022350.5

p.A695fs

c.2083_2084fs

1 paper

NM_022350.5

p.D682V

c.2045A>T

1 paper

NM_022350.5

p.D678Y

c.2032G>T

1 paper

NM_022350.5

p.R736K

c.2207G>A

1 paper

NM_022350.5

p.R751C

c.2251C>T

1 paper

NM_022350.5

p.Q811delFs

c.2432delA

1 paper

NM_022350.5

p.Q811fs

c.2431_2432fs

1 paper

NM_022350.5

p.H833Y

c.2497C>T

1 paper

NM_022350.5

p.E835K

c.2503G>A

2 papers

NM_022350.5

p.L837S

c.2510T>C

1 paper

NM_022350.5

p.R865H

c.2594G>A

8 papers

NM_022350.5

p.L669Q

c.2006T>A