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.P566S

c.1696C>T

Surrounding Variants

1 paper

NM_001040458.3

p.G560E

c.1679G>A

58 papers

NM_001040458.3

p.D575N

c.1723G>A

1 paper

NM_001040458.3

p.L581S

c.1742T>C

1 paper

NM_001040458.3

p.L591L

c.1773C>G

1 paper

NM_001040458.3

p.M604T

c.1811T>C

1 paper

NM_001040458.3

p.D614G

c.1841A>G

1 paper

NM_001040458.3

p.D614A

c.1841A>C

1 paper

NM_001040458.3

p.A637A

c.1911G>A

4 papers

NM_001040458.3

p.V647I

c.1939G>A

1 paper

NM_001040458.3

p.P557P

c.1671G>A

1 paper

NM_001040458.3

p.V542A

c.1625T>C

2 papers

NM_001040458.3

p.R538T

c.1613G>C