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.T345P

c.1033A>C

Surrounding Variants

15 papers

NM_002116.8

p.T345S

c.1033A>T

14 papers

NM_002116.8

p.T345S

c.1034C>G

1 paper

NM_002116.8

p.Y344Y

c.1032C>T

1 paper

NM_002116.8

p.Y344C

c.1031A>G

1 paper

NM_002116.8

p.S343R

c.1029T>A

1 paper

NM_002116.8

p.S343S

c.1029T>C

1 paper

NM_002116.8

p.S343R

c.1029T>G

1 paper

NM_002116.8

p.S343_T345delins

c.1029_1033delinsCTACT

1 paper

NM_002116.8

p.S343R

c.1027A>C

1 paper

NM_002116.8

p.S343del1

c.1027_1028delAGT

1 paper

NM_002116.8

p.G342E

c.1025G>A

1 paper

NM_002116.8

p.G342R

c.1024G>A