Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.D7H

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
3 papers
NM_000517.6
p.D7H
c.19G>C
Surrounding Variants
3 papers
NM_000517.6
p.D7N
c.19G>A
1 paper
NM_000517.6
p.D7Y
c.19G>T
1 paper
NM_000517.6
p.D7delFs
c.20delA
2 papers
NM_000517.6
p.D7G
c.20A>G
5 papers
NM_000517.6
p.D7V
c.20A>T
2 papers
NM_000517.6
p.A6A
c.18C>G
2 papers
NM_000517.6
p.A6D
c.17C>A
1 paper
NM_000517.6
p.A6V
c.17C>T
1 paper
NM_000517.6
p.K8del1
c.22_24delAAG
1 paper
NM_000517.6
p.K8_T9insFs
c.23_26dup4
2 papers
NM_000517.6
p.K8Q
c.22A>C
4 papers
NM_000517.6
p.K8E
c.22A>G
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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."