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.D126N

c.376G>A

Surrounding Variants

6 papers

NM_002116.8

p.D126H

c.376G>C

1 paper

NM_002116.8

p.D126fs

c.376_377fs

1 paper

NM_002116.8

p.D126_D130delFs

c.378_390del13

2 papers

NM_002116.8

p.C125F

c.374G>T

1 paper

NM_002116.8

p.V127M

c.379G>A

1 paper

NM_002116.8

p.V127L

c.379G>C

1 paper

NM_002116.8

p.C125R

c.373T>C

1 paper

NM_002116.8

p.G124A

c.371G>C

1 paper

NM_002116.8

p.G128W

c.382G>T

1 paper

NM_002116.8

p.G128A

c.383G>C

1 paper

NM_002116.8

p.Y123*

c.369T>A

1 paper

NM_002116.8

p.Y123*

c.369T>G