Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.L114H

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.L114H
c.341T>A
Surrounding Variants
1 paper
NM_000558.5
p.L114delins
c.342delinsAAGTAGA
1 paper
NM_000558.5
p.L114fs
c.340_341fs
2 papers
NM_000558.5
p.L114_P115insGAA
c.340_344ins9
1 paper
NM_000558.5
p.H113Q
c.339C>A
4 papers
NM_000558.5
p.P115A
c.343C>G
2 papers
NM_000558.5
p.H113Q
c.339C>G
3 papers
NM_000558.5
p.P115S
c.343C>T
1 paper
NM_000558.5
p.L114_E117del0
c.340_351del12
1 paper
NM_000558.5
p.H113R
c.338A>G
5 papers
NM_000558.5
p.P115H
c.344C>A
3 papers
NM_000558.5
p.P115R
c.344C>G
4 papers
NM_000558.5
p.P115L
c.344C>T
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