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.V271L

c.811G>C

Surrounding Variants

1 paper

NM_002116.8

p.V271fs

c.811_812fs

2 papers

NM_002116.8

p.V272M

c.814G>A

1 paper

NM_002116.8

p.V272_V273insC

c.814_818ins3

12 papers

NM_002116.8

p.A270S

c.808G>T

5 papers

NM_002116.8

p.A269V

c.806C>T

1 paper

NM_002116.8

p.P274_S275insC

c.820_824ins3

1 paper

NM_002116.8

p.P274S

c.820C>T

2 papers

NM_002116.8

p.W268_A269insG

c.802_806ins3

1 paper

NM_002116.8

p.Q266*

c.796C>T

1 paper

NM_002116.8

p.G276R

c.826G>A

1 paper

NM_002116.8

p.G276_E277insC

c.826_830ins3

1 paper

NM_002116.8

p.F265F

c.795C>T