Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.V74L

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.V74L
c.220G>T
Surrounding Variants
1 paper
NM_000558.5
p.V74M
c.220G>A
1 paper
NM_000558.5
p.V74L
c.220G>C
1 paper
NM_000558.5
p.V74delFs
c.221delT
1 paper
NM_000558.5
p.V74fs
c.220_221fs
1 paper
NM_000558.5
p.H73Q
c.219C>A
1 paper
NM_000558.5
p.H73Q
c.219C>G
3 papers
NM_000558.5
p.H73R
c.218A>G
2 papers
NM_000558.5
p.D76del1
c.226_228delGAC
1 paper
NM_000558.5
p.H73Y
c.217C>T
7 papers
NM_000558.5
p.D75N
c.223G>A
67 papers
NM_000558.5
p.D75H
c.223G>C
5 papers
NM_000558.5
p.D75Y
c.223G>T
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