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.Q242K

c.724C>A

Surrounding Variants

2 papers

NM_002116.8

p.Q242*

c.724C>T

2 papers

NM_002116.8

p.R243W

c.727C>T

3 papers

NM_002116.8

p.R243Q

c.728G>A

1 paper

NM_002116.8

p.R243P

c.728G>C

1 paper

NM_002116.8

p.T240I

c.719C>T

1 paper

NM_002116.8

p.T240fs

c.718_719fs

1 paper

NM_002116.8

p.D244N

c.730G>A

1 paper

NM_002116.8

p.L239R

c.716T>G

2 papers

NM_002116.8

p.G245R

c.733G>A

1 paper

NM_002116.8

p.G245_E246insAGT

c.733_737ins9

1 paper

NM_002116.8

p.T238I

c.713C>T

1 paper

NM_002116.8

p.T238S

c.712A>T