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.T55T

c.165G>A

Surrounding Variants

1 paper

NM_002116.8

p.Q56delFs

c.166delC

1 paper

NM_002116.8

p.T55K

c.164C>A

2 papers

NM_002116.8

p.T55insFs

c.164_165insT

1 paper

NM_002116.8

p.Q56E

c.166C>G

1 paper

NM_002116.8

p.T55fs

c.163_164fs

4 papers

NM_002116.8

p.T55S

c.163A>T

2 papers

NM_002116.8

p.Q56L

c.167A>T

1 paper

NM_002116.8

p.D54N

c.160G>A

1 paper

NM_002116.8

p.D54fs

c.160_161fs

1 paper

NM_002116.8

p.D54delFs

c.161_162delAC

1 paper

NM_002116.8

p.F57Y

c.170T>A

1 paper

NM_002116.8

p.F57S

c.170T>C