Varaico: Literature-Extracted Genetic Variants

HLA-E

131 papers

RefSeq Summary

HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the...

Pfam Domains

MHC_Iaa 22–200UCSCClass I Histocompatibility antigen, domains alpha 1 and 2

C1-setaa 208–287UCSCImmunoglobulin C1-set domain

MHC_I_Caa 334–355UCSCMHC_I C-terminus

Gene Aliases

HGNC Name

major histocompatibility complex, class I, E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005516.6

p.V2I

c.4G>A

Surrounding Variants

1 paper

NM_005516.6

p.D3D

c.9T>C

1 paper

NM_005516.6

p.T5insFs

c.13_14insA

1 paper

NM_005516.6

p.G4G

c.12A>C

2 papers

NM_005516.6

p.L6F

c.16C>T

1 paper

NM_005516.6

p.L7F

c.19C>T

1 paper

NM_005516.6

p.L7P

c.20T>C

1 paper

NM_005516.6

p.L9F

c.25C>T

1 paper

NM_005516.6

p.E12K

c.34G>A

1 paper

NM_005516.6

p.A21S

c.61G>T

1 paper

NM_005516.6

p.G22Splc

c.65-110G>A

1 paper

NM_005516.6

p.S25T

c.73T>A

1 paper

NM_005516.6

p.L26F

c.78G>T