Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.V94M

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.V94M
c.280G>A
Surrounding Variants
1 paper
NM_000558.5
p.V94L
c.280G>T
3 papers
NM_000558.5
p.V94A
c.281T>C
1 paper
NM_000558.5
p.V94G
c.281T>G
4 papers
NM_000558.5
p.R93Q
c.278G>A
2 papers
NM_000558.5
p.V94_K100ins2
c.280_300dup21
1 paper
NM_000558.5
p.R93L
c.278G>T
1 paper
NM_000558.5
p.R93G
c.277C>G
1 paper
NM_000558.5
p.R93W
c.277C>T
5 papers
NM_000558.5
p.D95N
c.283G>A
3 papers
NM_000558.5
p.D95H
c.283G>C
1 paper
NM_000558.5
p.D95Y
c.283G>T
1 paper
NM_000558.5
p.P96insFs
c.287dupC
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