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.P133A

c.397C>G

Surrounding Variants

1 paper

NM_022350.5

p.M131I

c.393G>A

1 paper

NM_022350.5

p.M131I

c.393G>C

1 paper

NM_022350.5

p.M131I

c.393G>T

1 paper

NM_022350.5

p.A149V

c.446C>T

1 paper

NM_022350.5

p.D114N

c.340G>A

1 paper

NM_022350.5

p.H111Y

c.331C>T

1 paper

NM_022350.5

p.L156R

c.467T>G

1 paper

NM_022350.5

p.I97I

c.291C>T

1 paper

NM_022350.5

p.D79E

c.237C>A

1 paper

NM_022350.5

p.D79E

c.237C>G

1 paper

NM_022350.5

p.P70T

c.208C>A

1 paper

NM_022350.5

p.P41P

c.123A>G