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.R106_G107delins

c.317_319delinsTCC

Surrounding Variants

1 paper

NM_002116.8

p.R106H

c.317G>A

1 paper

NM_002116.8

p.R106L

c.317G>T

1 paper

NM_002116.8

p.R106R

c.318C>T

1 paper

NM_002116.8

p.R106fs

c.316_317fs

1 paper

NM_002116.8

p.L105L

c.315G>C

1 paper

NM_002116.8

p.G107R

c.319G>C

1 paper

NM_002116.8

p.L105_R106insFs

c.315_316insC

2 papers

NM_002116.8

p.G107insFs

c.319_320ins4

2 papers

NM_002116.8

p.L105P

c.314T>C

2 papers

NM_002116.8

p.L105delFs

c.315delG

1 paper

NM_002116.8

p.L105V

c.313C>G

1 paper

NM_002116.8

p.L105delins

c.313_314delinsGC