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.Q67*

c.199C>T

Surrounding Variants

1 paper

NM_002116.8

p.Q67fs

c.199_200fs

2 papers

NM_002116.8

p.Q67P

c.200A>C

1 paper

NM_002116.8

p.Q67R

c.200A>G

1 paper

NM_002116.8

p.Q67L

c.200A>T

1 paper

NM_002116.8

p.S66N

c.197G>A

1 paper

NM_002116.8

p.Q67Q

c.201G>A

1 paper

NM_002116.8

p.S66T

c.197G>C

1 paper

NM_002116.8

p.S66I

c.197G>T

1 paper

NM_002116.8

p.S66fs

c.196_197fs

1 paper

NM_002116.8

p.R68G

c.202A>G

9 papers

NM_002116.8

p.R68K

c.203G>A

1 paper

NM_002116.8

p.R68_M69insFs

c.204_205insAG