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.I649M

c.1947T>G

Surrounding Variants

1 paper

NM_001040458.3

p.Q698L

c.2093A>T

1 paper

NM_001040458.3

p.K700_A701Splc

c.2101-89C>T

1 paper

NM_001040458.3

p.R725*

c.2173C>T

66 papers

NM_001040458.3

p.R725Q

c.2174G>A

1 paper

NM_001040458.3

p.R728Q

c.2183G>A

84 papers

NM_001040458.3

p.Q730E

c.2188C>G

1 paper

NM_001040458.3

p.L733R

c.2198T>G

1 paper

NM_001040458.3

p.L734R

c.2201T>G

1 paper

NM_001040458.3

p.C736R

c.2206T>C

1 paper

NM_001040458.3

p.V737A

c.2210T>C

1 paper

NM_001040458.3

p.R752G

c.2254A>G

4 papers

NM_001040458.3

p.V647I

c.1939G>A