Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.G23fs

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
1 paper
NM_000517.6
p.G23fs
c.67_68fs
Surrounding Variants
2 papers
NM_000517.6
p.G23R
c.67G>C
1 paper
NM_000517.6
p.G23fs
c.67_68fs
1 paper
NM_000517.6
p.G23_Y25delFs
c.68_74del7
2 papers
NM_000517.6
p.G23D
c.68G>A
1 paper
NM_000517.6
p.G23A
c.68G>C
5 papers
NM_000517.6
p.G23delFs
c.69delC
2 papers
NM_000517.6
p.A22_G23insFs
c.66_67insT
10 papers
NM_000517.6
p.G23G
c.69C>T
2 papers
NM_000517.6
p.A22V
c.65C>T
2 papers
NM_000517.6
p.G23_G26del0
c.69_77del9
3 papers
NM_000517.6
p.E24K
c.70G>A
1 paper
NM_000517.6
p.A22T
c.64G>A
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