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.G228V

c.683G>T

Surrounding Variants

2 papers

NM_005516.6

p.Y230C

c.689A>G

2 papers

NM_005516.6

p.L222L

c.666G>T

1 paper

NM_005516.6

p.L236L

c.706C>T

1 paper

NM_005516.6

p.D217A

c.650A>C

1 paper

NM_005516.6

p.Q240K

c.718C>A

1 paper

NM_005516.6

p.Q240*

c.718C>T

1 paper

NM_005516.6

p.G242A

c.725G>C

1 paper

NM_005516.6

p.E243*

c.727G>T

1 paper

NM_005516.6

p.G244G

c.732C>T

1 paper

NM_005516.6

p.T246I

c.737C>T

1 paper

NM_005516.6

p.Q247H

c.741G>C

1 paper

NM_005516.6

p.Q247H

c.741G>T