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.Y147D

c.439T>G

Surrounding Variants

1 paper

NM_002116.8

p.Y147N

c.439T>A

1 paper

NM_002116.8

p.Y147fs

c.439_440fs

3 papers

NM_002116.8

p.Y147C

c.440A>G

1 paper

NM_002116.8

p.D146insFs

c.438dupT

2 papers

NM_002116.8

p.I148L

c.442A>C

1 paper

NM_002116.8

p.D146N

c.436G>A

1 paper

NM_002116.8

p.D146H

c.436G>C

1 paper

NM_002116.8

p.K145N

c.435G>C

1 paper

NM_002116.8

p.K145N

c.435G>T

1 paper

NM_002116.8

p.I148N

c.443T>A

1 paper

NM_002116.8

p.A149T

c.445G>A

1 paper

NM_002116.8

p.A149D

c.446C>A