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

3 papers

NM_002116.8

p.R41R

c.123C>G

Surrounding Variants

3 papers

NM_002116.8

p.R41H

c.122G>A

2 papers

NM_002116.8

p.G42R

c.124G>A

5 papers

NM_002116.8

p.R41S

c.121C>A

1 paper

NM_002116.8

p.R41delins

c.121_123delinsAGT

1 paper

NM_002116.8

p.R41fs

c.121_122fs

2 papers

NM_002116.8

p.R41_G42delins

c.121_126delinsAGTGGA

1 paper

NM_002116.8

p.R41_F46delFs

c.122_137del16

1 paper

NM_002116.8

p.G42V

c.125G>T

1 paper

NM_002116.8

p.G42G

c.126G>A

4 papers

NM_002116.8

p.E43K

c.127G>A

1 paper

NM_002116.8

p.E43Q

c.127G>C

1 paper

NM_002116.8

p.G40V

c.119G>T