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.M69T

c.206T>C

Surrounding Variants

2 papers

NM_002116.8

p.M69K

c.206T>A

1 paper

NM_002116.8

p.M69R

c.206T>G

2 papers

NM_002116.8

p.M69V

c.205A>G

1 paper

NM_002116.8

p.M69L

c.205A>T

1 paper

NM_002116.8

p.M69fs

c.205_206fs

1 paper

NM_002116.8

p.R68R

c.204G>A

1 paper

NM_002116.8

p.E70K

c.208G>A

1 paper

NM_002116.8

p.E70Q

c.208G>C

1 paper

NM_002116.8

p.M69insFs

c.205dupA

1 paper

NM_002116.8

p.E70fs

c.208_209fs

2 papers

NM_002116.8

p.E70*

c.208G>T

1 paper

NM_002116.8

p.E70_P74del0

c.209_220del12