Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.D75V

HBA1

827 papers

RefSeq Summary

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) ...

Gene Aliases

HGNC Name

hemoglobin subunit alpha 1

HGNC Alias Symbol

HBA-T3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000558.5
p.D75V
c.224A>T
Surrounding Variants
3 papers
NM_000558.5
p.D75A
c.224A>C
5 papers
NM_000558.5
p.D75G
c.224A>G
1 paper
NM_000558.5
p.D75E
c.225C>G
7 papers
NM_000558.5
p.D75N
c.223G>A
67 papers
NM_000558.5
p.D75H
c.223G>C
5 papers
NM_000558.5
p.D75Y
c.223G>T
4 papers
NM_000558.5
p.D76N
c.226G>A
6 papers
NM_000558.5
p.D76H
c.226G>C
3 papers
NM_000558.5
p.D76Y
c.226G>T
2 papers
NM_000558.5
p.D76del1
c.226_228delGAC
1 paper
NM_000558.5
p.D76A
c.227A>C
2 papers
NM_000558.5
p.D76G
c.227A>G
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