Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.Y25D

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.Y25D
c.73T>G
Surrounding Variants
2 papers
NM_000517.6
p.Y25H
c.73T>C
1 paper
NM_000517.6
p.Y25C
c.74A>G
1 paper
NM_000517.6
p.E24D
c.72G>T
2 papers
NM_000517.6
p.Y25_G26del2
c.73_77del6
1 paper
NM_000517.6
p.E24A
c.71A>C
1 paper
NM_000517.6
p.E24G
c.71A>G
9 papers
NM_000517.6
p.Y25*
c.75T>A
4 papers
NM_000517.6
p.Y25*
c.75T>G
3 papers
NM_000517.6
p.E24K
c.70G>A
3 papers
NM_000517.6
p.E24Q
c.70G>C
1 paper
NM_000517.6
p.E24fs
c.70_71fs
4 papers
NM_000517.6
p.E24*
c.70G>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."