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.M213V

c.637A>G

Surrounding Variants

1 paper

NM_002116.8

p.M213L

c.637A>T

1 paper

NM_002116.8

p.T214P

c.640A>C

1 paper

NM_002116.8

p.H212fs

c.634_635fs

1 paper

NM_002116.8

p.H212D

c.634C>G

1 paper

NM_002116.8

p.T211T

c.633A>G

1 paper

NM_002116.8

p.T211_I218delins

c.633_652delinsGCATATGACTCACCACGCTG

2 papers

NM_002116.8

p.T211I

c.632C>T

2 papers

NM_002116.8

p.T214T

c.642C>T

1 paper

NM_002116.8

p.T211fs

c.631_632fs

1 paper

NM_002116.8

p.T211fs

c.631_632fs

2 papers

NM_002116.8

p.K210fs

c.628_629fs

2 papers

NM_002116.8

p.K210fs

c.628_629fs