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

1–12 of 120 variants

6 papers

NM_005516.6

p.G128R

c.382G>A

5 papers

NM_005516.6

p.G128R

c.382G>C

4 papers

NM_005516.6

p.W346S

c.1037G>C

3 papers

NM_005516.6

p.P288S

c.862C>T

2 papers

NM_005516.6

p.L6F

c.16C>T

2 papers

NM_005516.6

p.N59D

c.175A>G

2 papers

NM_005516.6

p.V67V

c.201G>A

2 papers

NM_005516.6

p.L222L

c.666G>T

2 papers

NM_005516.6

p.Y230C

c.689A>G

2 papers

NM_005516.6

p.T254T

c.762C>T

2 papers

NM_005516.6

p.Q276P

c.827A>C

2 papers

NM_005516.6

p.P288H

c.863C>A