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.E183V

c.548A>T

Surrounding Variants

1 paper

NM_001040458.3

p.E183A

c.548A>C

2 papers

NM_001040458.3

p.P184R

c.551C>G

1 paper

NM_001040458.3

p.Q181E

c.541C>G

1 paper

NM_001040458.3

p.R188G

c.562A>G

1 paper

NM_001040458.3

p.R175W

c.523A>T

1 paper

NM_001040458.3

p.R175G

c.523A>G

1 paper

NM_001040458.3

p.P197A

c.589C>G

3 papers

NM_001040458.3

p.F199S

c.596T>C

1 paper

NM_001040458.3

p.A201T

c.601G>A

1 paper

NM_001040458.3

p.I205M

c.615C>G

2 papers

NM_001040458.3

p.P211_H213del3

c.631_638del9

1 paper

NM_001040458.3

p.L221_V222Splc

c.663+145G>A