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

14 papers

NM_002116.8

p.G103E

c.308G>A

Surrounding Variants

1 paper

NM_002116.8

p.G103A

c.308G>C

2 papers

NM_002116.8

p.G103R

c.307G>A

2 papers

NM_002116.8

p.G103R

c.307G>C

1 paper

NM_002116.8

p.T104insFs

c.310_311ins7

1 paper

NM_002116.8

p.T104fs

c.310_311fs

1 paper

NM_002116.8

p.T104N

c.311C>A

1 paper

NM_002116.8

p.T104I

c.311C>T

1 paper

NM_002116.8

p.T104T

c.312C>A

1 paper

NM_002116.8

p.L102fs

c.304_305fs

1 paper

NM_002116.8

p.L105V

c.313C>G

1 paper

NM_002116.8

p.L105delins

c.313_314delinsGC

1 paper

NM_002116.8

p.D101G

c.302A>G