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.P217_I218delins

c.651_652delinsTG

Surrounding Variants

2 papers

NM_002116.8

p.P217P

c.651C>T

2 papers

NM_002116.8

p.I218fs

c.652_653fs

1 paper

NM_002116.8

p.I218insFs

c.652_653insTG

10 papers

NM_002116.8

p.I218V

c.652A>G

11 papers

NM_002116.8

p.P217A

c.649C>G

1 paper

NM_002116.8

p.P217S

c.649C>T

1 paper

NM_002116.8

p.P217delins

c.649_651delinsGCT

1 paper

NM_002116.8

p.H216Q

c.648C>A

1 paper

NM_002116.8

p.H216Q

c.648C>G

2 papers

NM_002116.8

p.P217insFs

c.650_651dupCC

1 paper

NM_002116.8

p.H216R

c.647A>G

1 paper

NM_002116.8

p.S219insFs

c.657dupT