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.Y51insFs

c.151_152ins23

Surrounding Variants

1 paper

NM_002116.8

p.Y51H

c.151T>C

1 paper

NM_002116.8

p.Y51C

c.152A>G

1 paper

NM_002116.8

p.G50G

c.150C>T

1 paper

NM_002116.8

p.G50D

c.149G>A

1 paper

NM_002116.8

p.G50V

c.149G>T

1 paper

NM_002116.8

p.G50R

c.148G>C

1 paper

NM_002116.8

p.V52L

c.154G>C

1 paper

NM_002116.8

p.G50fs

c.148_149fs

1 paper

NM_002116.8

p.G50C

c.148G>T

1 paper

NM_002116.8

p.V52L

c.154G>T

2 papers

NM_002116.8

p.V49V

c.147G>C

1 paper

NM_002116.8

p.V52E

c.155T>A