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.L196P

c.587T>C

Surrounding Variants

1 paper

NM_002116.8

p.E197K

c.589G>A

1 paper

NM_002116.8

p.E197E

c.591G>A

5 papers

NM_002116.8

p.Y195H

c.583T>C

1 paper

NM_002116.8

p.Y195fs

c.583_584fs

1 paper

NM_002116.8

p.R194fs

c.580_581fs

1 paper

NM_002116.8

p.R194_G199delFs

c.582_595del14

1 paper

NM_002116.8

p.N198N

c.594C>T

7 papers

NM_002116.8

p.G199R

c.595G>A

6 papers

NM_002116.8

p.G199R

c.595G>C

1 paper

NM_002116.8

p.R193H

c.578G>A

1 paper

NM_002116.8

p.R193fs

c.577_578fs

1 paper

NM_002116.8

p.G199G

c.597G>T