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.T224T

c.672C>T

Surrounding Variants

3 papers

NM_002116.8

p.A223V

c.668C>T

1 paper

NM_002116.8

p.T224_C227del4

c.670_680del12

1 paper

NM_002116.8

p.A223T

c.667G>A

1 paper

NM_002116.8

p.E222E

c.666G>A

1 paper

NM_002116.8

p.E222insFs

c.665_666ins4

1 paper

NM_002116.8

p.C227Y

c.680G>A

1 paper

NM_002116.8

p.C227W

c.681C>G

1 paper

NM_002116.8

p.W228fs

c.682_683fs

4 papers

NM_002116.8

p.W228*

c.683G>A

4 papers

NM_002116.8

p.W228*

c.684G>A

1 paper

NM_002116.8

p.A229T

c.685G>A

1 paper

NM_002116.8

p.A229D

c.686C>A