Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.A64fs

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.A64fs
c.190_191fs
Surrounding Variants
1 paper
NM_000558.5
p.A64T
c.190G>A
4 papers
NM_000558.5
p.A64D
c.191C>A
1 paper
NM_000558.5
p.D65_D75del0
c.193_225del33
3 papers
NM_000558.5
p.V63A
c.188T>C
2 papers
NM_000558.5
p.V63delFs
c.189delG
8 papers
NM_000558.5
p.D65N
c.193G>A
1 paper
NM_000558.5
p.V63M
c.187G>A
18 papers
NM_000558.5
p.D65H
c.193G>C
3 papers
NM_000558.5
p.N69_A70ins4
c.207_208ins12
1 paper
NM_000558.5
p.V63fs
c.187_188fs
1 paper
NM_000558.5
p.D65Y
c.193G>T
2 papers
NM_000558.5
p.V63fs
c.187_188fs
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