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

1–12 of 937 variants

18 papers

NM_002116.8

p.Q86E

c.256C>G

15 papers

NM_002116.8

p.T345S

c.1033A>T

14 papers

NM_002116.8

p.G103E

c.308G>A

14 papers

NM_002116.8

p.T345S

c.1034C>G

13 papers

NM_002116.8

p.N151K

c.453C>A

13 papers

NM_002116.8

p.N151K

c.453C>G

12 papers

NM_002116.8

p.A270S

c.808G>T

11 papers

NM_002116.8

p.Q78R

c.233A>G

11 papers

NM_002116.8

p.N90K

c.270T>A

11 papers

NM_002116.8

p.I121R

c.362T>G

11 papers

NM_002116.8

p.I166T

c.497T>C

11 papers

NM_002116.8

p.P217A

c.649C>G