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.S165_T166delFs

c.495_496delTG

Surrounding Variants

1 paper

NM_001040458.3

p.T169T

c.507C>T

1 paper

NM_001040458.3

p.E171G

c.512A>G

1 paper

NM_001040458.3

p.G161R

c.481G>A

1 paper

NM_001040458.3

p.H160N

c.478C>A

1 paper

NM_001040458.3

p.R175G

c.523A>G

1 paper

NM_001040458.3

p.S156W

c.467C>G

1 paper

NM_001040458.3

p.S156*

c.467C>A

1 paper

NM_001040458.3

p.H150Q

c.450C>G

1 paper

NM_001040458.3

p.H150Q

c.450C>A

1 paper

NM_001040458.3

p.Y145_T146delFs

c.435_436delTG

1 paper

NM_001040458.3

p.L143L

c.429C>T

1 paper

NM_001040458.3

p.G142R

c.424G>C