Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.H59L

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.H59L
c.176A>T
Surrounding Variants
1 paper
NM_000558.5
p.H59_G60insS
c.175_179ins3
4 papers
NM_000558.5
p.H59Y
c.175C>T
1 paper
NM_000558.5
p.G58G
c.174C>A
1 paper
NM_000558.5
p.H59_A64delFs
c.176_191del16
1 paper
NM_000558.5
p.G60S
c.178G>A
7 papers
NM_000558.5
p.G60R
c.178G>C
27 papers
NM_000558.5
p.G60D
c.179G>A
3 papers
NM_000558.5
p.G58D
c.173G>A
3 papers
NM_000558.5
p.G60V
c.179G>T
1 paper
NM_000558.5
p.G60G
c.180C>T
4 papers
NM_000558.5
p.K62del1
c.184_186delAAG
1 paper
NM_000558.5
p.G58S
c.172G>A
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