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

1 paper

NM_002116.8

p.T187_E190delFs

c.559_568del10

Surrounding Variants

4 papers

NM_002116.8

p.T187P

c.559A>C

1 paper

NM_002116.8

p.T187A

c.559A>G

1 paper

NM_002116.8

p.T187delins

c.559_560delinsCG

1 paper

NM_002116.8

p.T187fs

c.559_560fs

2 papers

NM_002116.8

p.T187K

c.560C>A

4 papers

NM_002116.8

p.T187R

c.560C>G

7 papers

NM_002116.8

p.D185E

c.555T>A

8 papers

NM_002116.8

p.D185E

c.555T>G

1 paper

NM_002116.8

p.G186insFs

c.556dupG

1 paper

NM_002116.8

p.D185_T187delins

c.555_560delinsGGGCCG

1 paper

NM_002116.8

p.C188R

c.562T>C

2 papers

NM_002116.8

p.C188Y

c.563G>A