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.E79Q

c.235G>C

Surrounding Variants

1 paper

NM_002116.8

p.E79A

c.236A>C

2 papers

NM_002116.8

p.E79V

c.236A>T

11 papers

NM_002116.8

p.Q78R

c.233A>G

1 paper

NM_002116.8

p.E79D

c.237G>C

1 paper

NM_002116.8

p.E79D

c.237G>T

2 papers

NM_002116.8

p.Q78fs

c.232_233fs

3 papers

NM_002116.8

p.Q78*

c.232C>T

9 papers

NM_002116.8

p.G80R

c.238G>A

6 papers

NM_002116.8

p.G80R

c.238G>C

1 paper

NM_002116.8

p.G80W

c.238G>T

1 paper

NM_002116.8

p.G80_P81delins

c.238_243delinsAGGCCT

5 papers

NM_002116.8

p.G80E

c.239G>A