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.Q165P

c.494A>C

Surrounding Variants

1 paper

NM_002116.8

p.Q165*

c.493C>T

1 paper

NM_002116.8

p.I166V

c.496A>G

1 paper

NM_002116.8

p.A164D

c.491C>A

1 paper

NM_002116.8

p.A164G

c.491C>G

11 papers

NM_002116.8

p.I166T

c.497T>C

1 paper

NM_002116.8

p.A164T

c.490G>A

2 papers

NM_002116.8

p.A164_Q165insT

c.490_494ins3

1 paper

NM_002116.8

p.T167A

c.499A>G

2 papers

NM_002116.8

p.A163A

c.489G>A

1 paper

NM_002116.8

p.A163A

c.489G>C

2 papers

NM_002116.8

p.A163A

c.489G>T

1 paper

NM_002116.8

p.A163_R169delins

c.489_506delinsAGCTCAGACCACCAAGCA