Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.G23G

HBA1

827 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) ...

Gene Aliases

HGNC Name

hemoglobin subunit alpha 1

HGNC Alias Symbol

HBA-T3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000558.5
p.G23G
c.69C>T
Surrounding Variants
2 papers
NM_000558.5
p.E24K
c.70G>A
1 paper
NM_000558.5
p.G23D
c.68G>A
4 papers
NM_000558.5
p.E24Q
c.70G>C
4 papers
NM_000558.5
p.E24*
c.70G>T
2 papers
NM_000558.5
p.G23delFs
c.69delC
1 paper
NM_000558.5
p.E24G
c.71A>G
2 papers
NM_000558.5
p.E24V
c.71A>T
1 paper
NM_000558.5
p.G23S
c.67G>A
1 paper
NM_000558.5
p.G23R
c.67G>C
1 paper
NM_000558.5
p.G23insFs
c.67_68ins4
1 paper
NM_000558.5
p.G23fs
c.67_68fs
1 paper
NM_000558.5
p.G23_Y25delFs
c.68_74del7
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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."