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

2 papers

NM_002116.8

p.E113*

c.337G>T

Surrounding Variants

1 paper

NM_002116.8

p.S112G

c.334A>G

5 papers

NM_002116.8

p.A114D

c.341C>A

1 paper

NM_002116.8

p.A114A

c.342C>T

1 paper

NM_002116.8

p.G115delFs

c.343delG

1 paper

NM_002116.8

p.N110T

c.329A>C

1 paper

NM_002116.8

p.N110delFs

c.330delC

2 papers

NM_002116.8

p.Y109*

c.327C>A

1 paper

NM_002116.8

p.Y109*

c.327C>G

1 paper

NM_002116.8

p.Y109Y

c.327C>T

1 paper

NM_002116.8

p.Y109D

c.325T>G

1 paper

NM_002116.8

p.Y108*

c.324C>A

1 paper

NM_002116.8

p.Y108*

c.324C>G