Varaico: Literature-Extracted Genetic Variants

HLA-A

1,059 papers

RefSeq Summary

HLA-A 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 25–203UCSCClass I Histocompatibility antigen, domains alpha 1 and 2

C1-setaa 211–290UCSCImmunoglobulin C1-set domain

MHC_I_Caa 337–364UCSCMHC_I C-terminus

Gene Aliases

HGNC Name

major histocompatibility complex, class I, A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002116.8

p.A64T

c.190G>A

Surrounding Variants

1 paper

NM_002116.8

p.A64S

c.190G>T

1 paper

NM_002116.8

p.D63E

c.189C>A

1 paper

NM_002116.8

p.D63E

c.189C>G

1 paper

NM_002116.8

p.A64_E70delFs

c.190_209del20

1 paper

NM_002116.8

p.D63A

c.188A>C

1 paper

NM_002116.8

p.D63G

c.188A>G

1 paper

NM_002116.8

p.D63H

c.187G>C

1 paper

NM_002116.8

p.A65P

c.193G>C

1 paper

NM_002116.8

p.D63Y

c.187G>T

1 paper

NM_002116.8

p.A65S

c.193G>T

1 paper

NM_002116.8

p.S62R

c.186C>G

1 paper

NM_002116.8

p.S62S

c.186C>T