Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.H113Q

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.H113Q
c.339C>A
Surrounding Variants
3 papers
NM_000517.6
p.H113Q
c.339C>G
3 papers
NM_000517.6
p.L114_E117del0
c.340_351del12
1 paper
NM_000517.6
p.H113R
c.338A>G
1 paper
NM_000517.6
p.H113delFs
c.339delC
1 paper
NM_000517.6
p.L114I
c.340C>A
1 paper
NM_000517.6
p.L114fs
c.340_341fs
1 paper
NM_000517.6
p.L114F
c.340C>T
1 paper
NM_000517.6
p.L114fs
c.340_341fs
1 paper
NM_000517.6
p.H113N
c.337C>A
1 paper
NM_000517.6
p.H113D
c.337C>G
1 paper
NM_000517.6
p.H113Y
c.337C>T
2 papers
NM_000517.6
p.L114H
c.341T>A
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