Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.Y43F

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.Y43F
c.128A>T
Surrounding Variants
1 paper
NM_000558.5
p.Y43S
c.128A>C
3 papers
NM_000558.5
p.Y43H
c.127T>C
2 papers
NM_000558.5
p.F44L
c.130T>C
1 paper
NM_000558.5
p.F44V
c.130T>G
1 paper
NM_000558.5
p.T42S
c.125C>G
1 paper
NM_000558.5
p.P45insFs
c.134_135insC
1 paper
NM_000558.5
p.P45delFs
c.134delC
1 paper
NM_000558.5
p.T42S
c.124A>T
1 paper
NM_000558.5
p.T42delFs
c.126delC
1 paper
NM_000558.5
p.F44L
c.132C>A
1 paper
NM_000558.5
p.F44L
c.132C>G
2 papers
NM_000558.5
p.P45_H46insG
c.133_137ins3
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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."