Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.H59Q

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
6 papers
NM_000517.6
p.H59Q
c.177C>G
Surrounding Variants
6 papers
NM_000517.6
p.H59Q
c.177C>A
1 paper
NM_000517.6
p.H59R
c.176A>G
1 paper
NM_000517.6
p.H59L
c.176A>T
1 paper
NM_000517.6
p.G60S
c.178G>A
14 papers
NM_000517.6
p.G60R
c.178G>C
2 papers
NM_000517.6
p.H59N
c.175C>A
1 paper
NM_000517.6
p.H59D
c.175C>G
9 papers
NM_000517.6
p.H59Y
c.175C>T
49 papers
NM_000517.6
p.G60D
c.179G>A
1 paper
NM_000517.6
p.G60A
c.179G>C
3 papers
NM_000517.6
p.G60V
c.179G>T
1 paper
NM_000517.6
p.G58G
c.174C>A
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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."