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.T519N

c.1556C>A

Surrounding Variants

1 paper

NM_001040458.3

p.G514R

c.1540G>C

1 paper

NM_001040458.3

p.G514R

c.1540G>A

1 paper

NM_001040458.3

p.Q512delins

c.1534_1535delinsAG

2 papers

NM_001040458.3

p.L526L

c.1578G>A

1 paper

NM_001040458.3

p.K528M

c.1583A>T

102 papers

NM_001040458.3

p.K528R

c.1583A>G

1 paper

NM_001040458.3

p.K528N

c.1584G>T

1 paper

NM_001040458.3

p.K528N

c.1584G>C

1 paper

NM_001040458.3

p.S508_H509Splc

c.1525-1G>T

1 paper

NM_001040458.3

p.L532fs

c.1594_1595fs

2 papers

NM_001040458.3

p.L532delFs

c.1595delA

2 papers

NM_001040458.3

p.R538T

c.1613G>C