Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.E28*

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
3 papers
NM_000558.5
p.E28*
c.82G>T
Surrounding Variants
1 paper
NM_000558.5
p.E28K
c.82G>A
2 papers
NM_000558.5
p.E28G
c.83A>G
1 paper
NM_000558.5
p.E28V
c.83A>T
1 paper
NM_000558.5
p.A27E
c.80C>A
1 paper
NM_000558.5
p.A27G
c.80C>G
5 papers
NM_000558.5
p.E28D
c.84G>C
2 papers
NM_000558.5
p.E28_A29insFs
c.84_85insC
27 papers
NM_000558.5
p.E28D
c.84G>T
8 papers
NM_000558.5
p.A27T
c.79G>A
4 papers
NM_000558.5
p.A29T
c.85G>A
1 paper
NM_000558.5
p.A29P
c.85G>C
1 paper
NM_000558.5
p.A27insFs
c.79_80insC
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