Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.D127A

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.D127A
c.380A>C
Surrounding Variants
1 paper
NM_000558.5
p.D127G
c.380A>G
2 papers
NM_000558.5
p.D127E
c.381C>A
2 papers
NM_000558.5
p.D127E
c.381C>G
2 papers
NM_000558.5
p.D127N
c.379G>A
1 paper
NM_000558.5
p.D127H
c.379G>C
1 paper
NM_000558.5
p.D127Y
c.379G>T
1 paper
NM_000558.5
p.K128Q
c.382A>C
5 papers
NM_000558.5
p.K128E
c.382A>G
1 paper
NM_000558.5
p.K128R
c.383A>G
1 paper
NM_000558.5
p.K128M
c.383A>T
1 paper
NM_000558.5
p.L126Q
c.377T>A
8 papers
NM_000558.5
p.L126P
c.377T>C
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