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.E278fs

c.832_833fs

Surrounding Variants

2 papers

NM_002116.8

p.E278K

c.832G>A

1 paper

NM_002116.8

p.E277delFs

c.831delG

1 paper

NM_002116.8

p.Q279K

c.835C>A

2 papers

NM_002116.8

p.Q279*

c.835C>T

1 paper

NM_002116.8

p.E277K

c.829G>A

10 papers

NM_002116.8

p.E277Q

c.829G>C

2 papers

NM_002116.8

p.E277*

c.829G>T

1 paper

NM_002116.8

p.R280fs

c.838_839fs

1 paper

NM_002116.8

p.G276R

c.826G>A

1 paper

NM_002116.8

p.G276_E277insC

c.826_830ins3

1 paper

NM_002116.8

p.R280S

c.840A>T

1 paper

NM_002116.8

p.Y281insFs

c.842dupA