Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.A72_H73insFs

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
7 papers
NM_000517.6
p.A72_H73insFs
c.216_217insA
Surrounding Variants
1 paper
NM_000517.6
p.H73insFs
c.217dupC
3 papers
NM_000517.6
p.H73D
c.217C>G
1 paper
NM_000517.6
p.A72G
c.215C>G
1 paper
NM_000517.6
p.A72V
c.215C>T
1 paper
NM_000517.6
p.H73Y
c.217C>T
1 paper
NM_000517.6
p.A72delFs
c.216delG
5 papers
NM_000517.6
p.H73R
c.218A>G
1 paper
NM_000517.6
p.H73Q
c.219C>A
1 paper
NM_000517.6
p.H73Q
c.219C>G
2 papers
NM_000517.6
p.V74_D75delFs
c.220_223del4
1 paper
NM_000517.6
p.V74L
c.220G>C
1 paper
NM_000517.6
p.V74L
c.220G>T
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