Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.D127Y

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.D127Y
c.379G>T
Surrounding Variants
5 papers
NM_000517.6
p.D127N
c.379G>A
1 paper
NM_000517.6
p.D127fs
c.379_380fs
3 papers
NM_000517.6
p.D127G
c.380A>G
3 papers
NM_000517.6
p.L126Q
c.377T>A
205 papers
NM_000517.6
p.L126P
c.377T>C
8 papers
NM_000517.6
p.L126R
c.377T>G
1 paper
NM_000517.6
p.D127delFs
c.379delG
1 paper
NM_000517.6
p.L126_D127delFs
c.378_379delGG
5 papers
NM_000517.6
p.K128E
c.382A>G
6 papers
NM_000517.6
p.K128*
c.382A>T
1 paper
NM_000517.6
p.L126M
c.376C>A
1 paper
NM_000517.6
p.L126L
c.376C>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."