Varaico: Literature-Extracted Genetic Variants

ERAP1

302 papers

RefSeq Summary

The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer ...

Pfam Domains

Peptidase_M1_Naa 59–246UCSCPeptidase M1 N-terminal domain

Peptidase_M1aa 281–524UCSCPeptidase family M1 domain

ERAP1_Caa 597–917UCSCERAP1-like C-terminal domain

Gene Aliases

HGNC Name

endoplasmic reticulum aminopeptidase 1

HGNC Alias Symbols

ARTS-1; A-LAP; PILS-AP; KIAA0525; ERAAP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001040458.3

p.A336A

c.1008A>C

Surrounding Variants

1 paper

NM_001040458.3

p.E337Q

c.1009G>C

1 paper

NM_001040458.3

p.K338E

c.1012A>G

1 paper

NM_001040458.3

p.K338N

c.1014G>T

1 paper

NM_001040458.3

p.K338N

c.1014G>C

1 paper

NM_001040458.3

p.S339F

c.1016C>T

1 paper

NM_001040458.3

p.S340Y

c.1019C>A

2 papers

NM_001040458.3

p.R328G

c.982A>G

1 paper

NM_001040458.3

p.G346A

c.1037G>C

20 papers

NM_001040458.3

p.G346D

c.1037G>A

52 papers

NM_001040458.3

p.M349V

c.1045A>G

1 paper

NM_001040458.3

p.T350A

c.1048A>G

2 papers

NM_001040458.3

p.E320A

c.959A>C