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.R258delFs

c.772delA

Surrounding Variants

1 paper

NM_002116.8

p.R258fs

c.772_773fs

2 papers

NM_002116.8

p.R258M

c.773G>T

1 paper

NM_002116.8

p.P259H

c.776C>A

1 paper

NM_002116.8

p.P259R

c.776C>G

3 papers

NM_002116.8

p.A260T

c.778G>A

5 papers

NM_002116.8

p.V255M

c.763G>A

1 paper

NM_002116.8

p.V255L

c.763G>C

1 paper

NM_002116.8

p.V255L

c.763G>T

1 paper

NM_002116.8

p.A260A

c.780A>G

1 paper

NM_002116.8

p.A260A

c.780A>T

1 paper

NM_002116.8

p.L254L

c.762C>T

1 paper

NM_002116.8

p.G261R

c.781G>A