Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.G16V

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
2 papers
NM_000517.6
p.G16V
c.47G>T
Surrounding Variants
4 papers
NM_000517.6
p.G16D
c.47G>A
6 papers
NM_000517.6
p.G16A
c.47G>C
1 paper
NM_000517.6
p.G16_K17insFs
c.48_49insT
17 papers
NM_000517.6
p.G16S
c.46G>A
8 papers
NM_000517.6
p.G16R
c.46G>C
1 paper
NM_000517.6
p.G16C
c.46G>T
1 paper
NM_000517.6
p.K17_G19ins1
c.50_55dup6
3 papers
NM_000517.6
p.K17Q
c.49A>C
7 papers
NM_000517.6
p.K17E
c.49A>G
2 papers
NM_000517.6
p.K17*
c.49A>T
2 papers
NM_000517.6
p.W15*
c.45G>A
4 papers
NM_000517.6
p.W15C
c.45G>C
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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."