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

1–12 of 186 variants

102 papers

NM_001040458.3

p.K528R

c.1583A>G

84 papers

NM_001040458.3

p.Q730E

c.2188C>G

66 papers

NM_001040458.3

p.R725Q

c.2174G>A

58 papers

NM_001040458.3

p.D575N

c.1723G>A

52 papers

NM_001040458.3

p.M349V

c.1045A>G

46 papers

NM_001040458.3

p.R127P

c.380G>C

27 papers

NM_001040458.3

p.I276M

c.828A>G

20 papers

NM_001040458.3

p.E56K

c.166G>A

20 papers

NM_001040458.3

p.G346D

c.1037G>A

10 papers

NM_001040458.3

p.T12I

c.35C>T

4 papers

NM_001040458.3

p.V647I

c.1939G>A

3 papers

NM_001040458.3

p.F199S

c.596T>C