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

8 papers

NM_002116.8

p.N90K

c.270T>G

Surrounding Variants

11 papers

NM_002116.8

p.N90K

c.270T>A

1 paper

NM_002116.8

p.N90I

c.269A>T

4 papers

NM_002116.8

p.V91M

c.271G>A

2 papers

NM_002116.8

p.N90insFs

c.268_269insG

1 paper

NM_002116.8

p.N90fs

c.268_269fs

1 paper

NM_002116.8

p.N90fs

c.268_269fs

1 paper

NM_002116.8

p.V91insFs

c.272_273insC

1 paper

NM_002116.8

p.N90insFs

c.269dupA

1 paper

NM_002116.8

p.N90delFs

c.268delA

1 paper

NM_002116.8

p.K92insFs

c.274_275insC

1 paper

NM_002116.8

p.K92fs

c.274_275fs

1 paper

NM_002116.8

p.K92R

c.275A>G