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.P843fs

c.2527_2528fs

Surrounding Variants

1 paper

NM_001040458.3

p.Q851K

c.2551C>A

1 paper

NM_001040458.3

p.E831Q

c.2491G>C

1 paper

NM_001040458.3

p.K828Q

c.2482A>C

1 paper

NM_001040458.3

p.V861A

c.2582T>C

1 paper

NM_001040458.3

p.D819Y

c.2455G>T

1 paper

NM_001040458.3

p.K863Q

c.2587A>C

1 paper

NM_001040458.3

p.S869Y

c.2606C>A

1 paper

NM_001040458.3

p.K798Q

c.2392A>C

1 paper

NM_001040458.3

p.M874V

c.2620A>G

1 paper

NM_001040458.3

p.Q881K

c.2641C>A

1 paper

NM_001040458.3

p.A776V

c.2327C>T

1 paper

NM_001040458.3

p.F772S

c.2315T>C