Varaico: Literature-Extracted Genetic Variants

ERAP2

119 papers

RefSeq Summary

This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major his...

Pfam Domains

Peptidase_M1_Naa 74–263UCSCPeptidase M1 N-terminal domain

Peptidase_M1aa 298–541UCSCPeptidase family M1 domain

ERAP1_Caa 620–940UCSCERAP1-like C-terminal domain

Gene Aliases

HGNC Name

endoplasmic reticulum aminopeptidase 2

HGNC Alias Symbols

L-RAP; LRAP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022350.5

p.S356S

c.1068T>C

Surrounding Variants

1 paper

NM_022350.5

p.D352G

c.1055A>G

1 paper

NM_022350.5

p.L350F

c.1048C>T

6 papers

NM_022350.5

p.T347M

c.1040C>T

1 paper

NM_022350.5

p.E346E

c.1038G>A

1 paper

NM_022350.5

p.L341I

c.1021C>A

1 paper

NM_022350.5

p.E384*

c.1150G>T

22 papers

NM_022350.5

p.K392N

c.1176G>C

22 papers

NM_022350.5

p.K392N

c.1176G>T

3 papers

NM_022350.5

p.L411R

c.1232T>G

1 paper

NM_022350.5

p.L323R

c.968T>G

1 paper

NM_022350.5

p.L300L

c.898T>C

1 paper

NM_022350.5

p.R293Q

c.878G>A