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.Q250*

c.748C>T

Surrounding Variants

1 paper

NM_002116.8

p.Q250fs

c.748_749fs

1 paper

NM_002116.8

p.Q250fs

c.748_749fs

2 papers

NM_002116.8

p.D251delFs

c.751delG

1 paper

NM_002116.8

p.Q250_D251Fs

c.750_751delinsCFs

5 papers

NM_002116.8

p.D251H

c.751G>C

3 papers

NM_002116.8

p.D251fs

c.751_752fs

1 paper

NM_002116.8

p.D251fs

c.751_752fs

2 papers

NM_002116.8

p.Q248H

c.744G>C

2 papers

NM_002116.8

p.Q248H

c.744G>T

1 paper

NM_002116.8

p.T252P

c.754A>C

1 paper

NM_002116.8

p.D247E

c.741C>G

1 paper

NM_002116.8

p.T252R

c.755C>G