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.K170N

c.510G>C

Surrounding Variants

1 paper

NM_002116.8

p.W171R

c.511T>C

1 paper

NM_002116.8

p.K170Q

c.508A>C

10 papers

NM_002116.8

p.R169H

c.506G>A

1 paper

NM_002116.8

p.R169C

c.505C>T

2 papers

NM_002116.8

p.E172D

c.516G>T

1 paper

NM_002116.8

p.A173T

c.517G>A

1 paper

NM_002116.8

p.A173fs

c.517_518fs

5 papers

NM_002116.8

p.K168Q

c.502A>C

1 paper

NM_002116.8

p.K168*

c.502A>T

1 paper

NM_002116.8

p.A173E

c.518C>A

2 papers

NM_002116.8

p.A173A

c.519G>A

1 paper

NM_002116.8

p.T167A

c.499A>G