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.D207Splc

c.620-6C>T

Surrounding Variants

2 papers

NM_002116.8

p.D207Splc

c.620-4T>A

1 paper

NM_002116.8

p.D207Splc

c.620-2A>T

1 paper

NM_002116.8

p.D207Splc

c.620-1G>T

1 paper

NM_002116.8

p.D207insFs

c.620_621ins5

3 papers

NM_002116.8

p.P209_K210insFs

c.627_628insC

1 paper

NM_002116.8

p.P209insFs

c.626_627dupCC

1 paper

NM_002116.8

p.P209delFs

c.627delC

3 papers

NM_002116.8

p.D207fs

c.619_620fs

1 paper

NM_002116.8

p.D207D

c.621C>T

1 paper

NM_002116.8

p.P208T

c.622C>A

1 paper

NM_002116.8

p.P208fs

c.622_623fs

6 papers

NM_002116.8

p.P208A

c.622C>G