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

4 papers

NM_005516.6

p.W346S

c.1037G>C

Surrounding Variants

1 paper

NM_005516.6

p.S342C

c.1025C>G

1 paper

NM_005516.6

p.W346S

c.1037G>C

1 paper

NM_005516.6

p.I305F

c.913A>T

1 paper

NM_005516.6

p.P304A

c.910C>G

1 paper

NM_005516.6

p.P304S

c.910C>T

1 paper

NM_005516.6

p.P301S

c.901C>T

1 paper

NM_005516.6

p.P297L

c.890C>T

1 paper

NM_005516.6

p.P297A

c.889C>G

1 paper

NM_005516.6

p.P297S

c.889C>T

1 paper

NM_005516.6

p.W295*

c.885G>A

1 paper

NM_005516.6

p.L293L

c.877C>T

1 paper

NM_005516.6

p.P290P

c.870C>T