Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.D76del1

HBA2

1,116 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) ...

Pfam Domains

Globinaa 27–137UCSCGlobin
Globinaa 27–137UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit alpha 2

HGNC Alias Symbol

HBA-T2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_000517.6
p.D76del1
c.226_228delGAC
Surrounding Variants
1 paper
NM_000517.6
p.V74V
c.222G>T
5 papers
NM_000517.6
p.D75N
c.223G>A
4 papers
NM_000517.6
p.D75H
c.223G>C
7 papers
NM_000517.6
p.D75Y
c.223G>T
4 papers
NM_000517.6
p.D75A
c.224A>C
4 papers
NM_000517.6
p.D75G
c.224A>G
1 paper
NM_000517.6
p.D75V
c.224A>T
1 paper
NM_000517.6
p.V74L
c.220G>C
1 paper
NM_000517.6
p.V74L
c.220G>T
1 paper
NM_000517.6
p.V74fs
c.220_221fs
1 paper
NM_000517.6
p.H73Q
c.219C>A
1 paper
NM_000517.6
p.D75E
c.225C>A
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