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.Q53R

c.158A>G

Surrounding Variants

1 paper

NM_005516.6

p.R56S

c.166C>A

2 papers

NM_005516.6

p.N59D

c.175A>G

1 paper

NM_005516.6

p.D60Y

c.178G>T

1 paper

NM_005516.6

p.S45F

c.134C>T

1 paper

NM_005516.6

p.I44V

c.130A>G

1 paper

NM_005516.6

p.R42L

c.125G>T

1 paper

NM_005516.6

p.P41A

c.121C>G

1 paper

NM_005516.6

p.M66T

c.197T>C

1 paper

NM_005516.6

p.V67E

c.200T>A

1 paper

NM_005516.6

p.V67A

c.200T>C

2 papers

NM_005516.6

p.V67V

c.201G>A

1 paper

NM_005516.6

p.P68S

c.202C>T