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.R181G

c.541A>G

Surrounding Variants

1 paper

NM_002116.8

p.R181T

c.542G>C

6 papers

NM_002116.8

p.L180*

c.539T>A

10 papers

NM_002116.8

p.L180W

c.539T>G

1 paper

NM_002116.8

p.A182T

c.544G>A

1 paper

NM_002116.8

p.A182P

c.544G>C

1 paper

NM_002116.8

p.L180L

c.538T>C

5 papers

NM_002116.8

p.L180delins

c.538_539delinsCA

1 paper

NM_002116.8

p.L180_W191delins

c.538_571delinsCGGAGAGTCTACCTGGAGGGCCGGTGCGTGGACG

3 papers

NM_002116.8

p.A182V

c.545C>T

2 papers

NM_002116.8

p.Q179R

c.536A>G

1 paper

NM_002116.8

p.Y183_R194del12

c.547_581del36

3 papers

NM_002116.8

p.Q179*

c.535C>T