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

5 papers

NM_005516.6

p.G128R

c.382G>C

Surrounding Variants

6 papers

NM_005516.6

p.G128R

c.382G>A

1 paper

NM_005516.6

p.G121G

c.363C>T

1 paper

NM_005516.6

p.H114H

c.342C>T

1 paper

NM_005516.6

p.T146I

c.437C>T

1 paper

NM_005516.6

p.L147L

c.439C>T

1 paper

NM_005516.6

p.W154S

c.461G>C

1 paper

NM_005516.6

p.A156V

c.467C>T

1 paper

NM_005516.6

p.T159T

c.477G>C

1 paper

NM_005516.6

p.Y180_L181insFs

c.540_541insG

1 paper

NM_005516.6

p.E194D

c.582G>C

1 paper

NM_005516.6

p.E194D

c.582G>T

1 paper

NM_005516.6

p.K197K

c.591G>A