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

10 papers

NM_001040458.3

p.T12I

c.35C>T

Surrounding Variants

1 paper

NM_001040458.3

p.L10F

c.28C>T

1 paper

NM_001040458.3

p.K7R

c.20A>G

2 papers

NM_001040458.3

p.L23R

c.68T>G

1 paper

NM_001040458.3

p.P46L

c.137C>T

2 papers

NM_001040458.3

p.R53P

c.158G>C

1 paper

NM_001040458.3

p.R53Q

c.158G>A

1 paper

NM_001040458.3

p.E56Q

c.166G>C

20 papers

NM_001040458.3

p.E56K

c.166G>A

2 papers

NM_001040458.3

p.Y57Y

c.171C>T

2 papers

NM_001040458.3

p.Y57_V58delFs

c.170_173del4

2 papers

NM_001040458.3

p.L71del1

c.211_213delAAG

1 paper

NM_001040458.3

p.T80A

c.238A>G