Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.E24G

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
1 paper
NM_000558.5
p.E24G
c.71A>G
Surrounding Variants
2 papers
NM_000558.5
p.E24V
c.71A>T
2 papers
NM_000558.5
p.E24K
c.70G>A
4 papers
NM_000558.5
p.E24Q
c.70G>C
1 paper
NM_000558.5
p.E24D
c.72G>C
4 papers
NM_000558.5
p.E24*
c.70G>T
1 paper
NM_000558.5
p.E24D
c.72G>T
1 paper
NM_000558.5
p.Y25_G26del2
c.73_77del6
2 papers
NM_000558.5
p.G23G
c.69C>T
2 papers
NM_000558.5
p.Y25H
c.73T>C
3 papers
NM_000558.5
p.Y25C
c.74A>G
1 paper
NM_000558.5
p.G23D
c.68G>A
2 papers
NM_000558.5
p.G23delFs
c.69delC
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