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.A235T

c.703G>A

Surrounding Variants

1 paper

NM_002116.8

p.A235fs

c.703_704fs

2 papers

NM_002116.8

p.A235A

c.705G>A

1 paper

NM_002116.8

p.P234S

c.700C>T

1 paper

NM_002116.8

p.E236K

c.706G>A

1 paper

NM_002116.8

p.Y233fs

c.697_698fs

2 papers

NM_002116.8

p.F232L

c.696C>A

2 papers

NM_002116.8

p.F232L

c.696C>G

1 paper

NM_002116.8

p.I237I

c.711C>T

1 paper

NM_002116.8

p.F232Y

c.695T>A

1 paper

NM_002116.8

p.F232C

c.695T>G

1 paper

NM_002116.8

p.T238S

c.712A>T

2 papers

NM_002116.8

p.F232L

c.694T>C