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

11 papers

NM_002116.8

p.I121R

c.362T>G

Surrounding Variants

2 papers

NM_002116.8

p.I121delins

c.362_363delinsGG

6 papers

NM_002116.8

p.I121M

c.363A>G

1 paper

NM_002116.8

p.I121I

c.363A>T

4 papers

NM_002116.8

p.Q120H

c.360G>C

3 papers

NM_002116.8

p.Q120H

c.360G>T

1 paper

NM_002116.8

p.Q120E

c.358C>G

1 paper

NM_002116.8

p.I119I

c.357C>T

1 paper

NM_002116.8

p.Y123H

c.367T>C

1 paper

NM_002116.8

p.Y123S

c.368A>C

1 paper

NM_002116.8

p.Y123C

c.368A>G

7 papers

NM_002116.8

p.Y123F

c.368A>T

5 papers

NM_002116.8

p.I119L

c.355A>C