Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.A111V

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
2 papers
NM_000517.6
p.A111V
c.332C>T
Surrounding Variants
3 papers
NM_000517.6
p.A111D
c.332C>A
3 papers
NM_000517.6
p.A111T
c.331G>A
1 paper
NM_000517.6
p.A112T
c.334G>A
1 paper
NM_000517.6
p.H113delFs
c.337delC
3 papers
NM_000517.6
p.A112V
c.335C>T
7 papers
NM_000517.6
p.L110R
c.329T>G
2 papers
NM_000517.6
p.T109T
c.327C>A
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
1 paper
NM_000517.6
p.H113R
c.338A>G
1 paper
NM_000517.6
p.H113delFs
c.339delC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."