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.R127delFs

c.379delG

Surrounding Variants

46 papers

NM_001040458.3

p.R127P

c.380G>C

1 paper

NM_001040458.3

p.R127fs

c.379_380fs

1 paper

NM_001040458.3

p.A132T

c.394G>A

1 paper

NM_001040458.3

p.L133V

c.397C>G

1 paper

NM_001040458.3

p.Q121*

c.361C>T

1 paper

NM_001040458.3

p.E137D

c.411G>T

1 paper

NM_001040458.3

p.E137D

c.411G>C

1 paper

NM_001040458.3

p.E117K

c.349G>A

1 paper

NM_001040458.3

p.L115P

c.344T>C

1 paper

NM_001040458.3

p.V141F

c.421G>T

1 paper

NM_001040458.3

p.G142R

c.424G>C

1 paper

NM_001040458.3

p.G142R

c.424G>A