Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.V122M

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
7 papers
NM_000517.6
p.V122M
c.364G>A
Surrounding Variants
4 papers
NM_000517.6
p.V122L
c.364G>C
1 paper
NM_000517.6
p.V122L
c.364G>T
9 papers
NM_000517.6
p.A121E
c.362C>A
7 papers
NM_000517.6
p.V122ins0
c.364_366dupGTG
1 paper
NM_000517.6
p.A121V
c.362C>T
1 paper
NM_000517.6
p.A121delFs
c.363delG
3 papers
NM_000517.6
p.H123Y
c.367C>T
5 papers
NM_000517.6
p.H123L
c.368A>T
16 papers
NM_000517.6
p.H123Q
c.369C>A
1 paper
NM_000517.6
p.P120H
c.359C>A
162 papers
NM_000517.6
p.H123Q
c.369C>G
1 paper
NM_000517.6
p.P120L
c.359C>T
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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."