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.V282V

c.846G>T

Surrounding Variants

1 paper

NM_005516.6

p.V282A

c.845T>C

1 paper

NM_005516.6

p.H284Y

c.850C>T

1 paper

NM_005516.6

p.E285D

c.855G>C

3 papers

NM_005516.6

p.P288S

c.862C>T

2 papers

NM_005516.6

p.P288H

c.863C>A

1 paper

NM_005516.6

p.P288R

c.863C>G

1 paper

NM_005516.6

p.P288L

c.863C>T

2 papers

NM_005516.6

p.Q276P

c.827A>C

1 paper

NM_005516.6

p.E289E

c.867G>A

1 paper

NM_005516.6

p.E289D

c.867G>C

1 paper

NM_005516.6

p.P290P

c.870C>T

1 paper

NM_005516.6

p.L293L

c.877C>T