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

3 papers

NM_002116.8

p.V100_D101delins

c.299_301delinsCGA

Surrounding Variants

4 papers

NM_002116.8

p.V100E

c.299T>A

6 papers

NM_002116.8

p.V100A

c.299T>C

1 paper

NM_002116.8

p.V100G

c.299T>G

1 paper

NM_002116.8

p.V100_D101delins

c.299_301delinsAGA

1 paper

NM_002116.8

p.V100V

c.300G>A

1 paper

NM_002116.8

p.D101delFs

c.301_302delGA

5 papers

NM_002116.8

p.D101N

c.301G>A

1 paper

NM_002116.8

p.D101G

c.302A>G

1 paper

NM_002116.8

p.L102delFs

c.304delC

2 papers

NM_002116.8

p.R99Q

c.296G>A

1 paper

NM_002116.8

p.R99P

c.296G>C

1 paper

NM_002116.8

p.R99L

c.296G>T