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

2 papers

NM_001040458.3

p.I299L

c.895A>T

Surrounding Variants

2 papers

NM_001040458.3

p.I299L

c.895A>C

1 paper

NM_001040458.3

p.P300S

c.898C>T

1 paper

NM_001040458.3

p.F297Y

c.890T>A

1 paper

NM_001040458.3

p.P302L

c.905C>T

2 papers

NM_001040458.3

p.F292I

c.874T>A

1 paper

NM_001040458.3

p.E291*

c.871G>T

2 papers

NM_001040458.3

p.L290P

c.869T>C

1 paper

NM_001040458.3

p.T288N

c.863C>A

2 papers

NM_001040458.3

p.A286V

c.857C>T

1 paper

NM_001040458.3

p.D284N

c.850G>A

27 papers

NM_001040458.3

p.I276M

c.828A>G

1 paper

NM_001040458.3

p.I276R

c.827T>G