Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.L49insFs

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.L49insFs
c.146_147ins4
Surrounding Variants
2 papers
NM_000558.5
p.L49P
c.146T>C
2 papers
NM_000558.5
p.L49R
c.146T>G
3 papers
NM_000558.5
p.H51ins2
c.151_152ins6
1 paper
NM_000558.5
p.S53_G60ins2
c.157_180dup24
6 papers
NM_000558.5
p.S50R
c.148A>C
3 papers
NM_000558.5
p.S53_G60del0
c.157_180del24
1 paper
NM_000558.5
p.D48A
c.143A>C
1 paper
NM_000558.5
p.D48G
c.143A>G
1 paper
NM_000558.5
p.S50N
c.149G>A
4 papers
NM_000558.5
p.S50R
c.150C>A
2 papers
NM_000558.5
p.S50R
c.150C>G
6 papers
NM_000558.5
p.D48N
c.142G>A
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