Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K12insFs

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.K12insFs
c.34_35insC
Surrounding Variants
12 papers
NM_000517.6
p.K12Q
c.34A>C
1 paper
NM_000517.6
p.K12*
c.34A>T
1 paper
NM_000517.6
p.K12T
c.35A>C
2 papers
NM_000517.6
p.V11V
c.33C>A
2 papers
NM_000517.6
p.K12K
c.36G>A
1 paper
NM_000517.6
p.V11D
c.32T>A
1 paper
NM_000517.6
p.V11A
c.32T>C
3 papers
NM_000517.6
p.A13P
c.37G>C
1 paper
NM_000517.6
p.V11F
c.31G>T
15 papers
NM_000517.6
p.A13D
c.38C>A
5 papers
NM_000517.6
p.N10K
c.30C>A
1 paper
NM_000517.6
p.N10_V11insFs
c.30_31insT
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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."