Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.A27T

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
17 papers
NM_000517.6
p.A27T
c.79G>A
Surrounding Variants
1 paper
NM_000517.6
p.A27insFs
c.79_80insC
4 papers
NM_000517.6
p.A27_E28insG
c.79_83ins3
6 papers
NM_000517.6
p.A27E
c.80C>A
6 papers
NM_000517.6
p.A27V
c.80C>T
5 papers
NM_000517.6
p.G26D
c.77G>A
1 paper
NM_000517.6
p.G26A
c.77G>C
7 papers
NM_000517.6
p.E28K
c.82G>A
4 papers
NM_000517.6
p.E28*
c.82G>T
1 paper
NM_000517.6
p.G26C
c.76G>T
3 papers
NM_000517.6
p.E28G
c.83A>G
3 papers
NM_000517.6
p.E28V
c.83A>T
2 papers
NM_000517.6
p.A29delFs
c.85delG
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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."