Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.A121E

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.A121E
c.362C>A
Surrounding Variants
1 paper
NM_000558.5
p.V122ins0
c.364_366dupGTG
10 papers
NM_000558.5
p.V122M
c.364G>A
3 papers
NM_000558.5
p.V122L
c.364G>C
1 paper
NM_000558.5
p.V122L
c.364G>T
3 papers
NM_000558.5
p.P120L
c.359C>T
1 paper
NM_000558.5
p.V122A
c.365T>C
16 papers
NM_000558.5
p.P120S
c.358C>T
2 papers
NM_000558.5
p.T119_P120ins1
c.357_358insTCA
1 paper
NM_000558.5
p.H123Y
c.367C>T
1 paper
NM_000558.5
p.T119N
c.356C>A
1 paper
NM_000558.5
p.T119I
c.356C>T
1 paper
NM_000558.5
p.T119_P120insT
c.355_359ins3
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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."