Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.T39S

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.T39S
c.115A>T
Surrounding Variants
1 paper
NM_000558.5
p.T39fs
c.115_116fs
2 papers
NM_000558.5
p.P38_T39ins1
c.114_115insGAA
3 papers
NM_000558.5
p.T39I
c.116C>T
1 paper
NM_000558.5
p.T40_T42del0
c.118_126del9
2 papers
NM_000558.5
p.P38R
c.113C>G
1 paper
NM_000558.5
p.K41_T42del0
c.121_126del6
1 paper
NM_000558.5
p.T40fs
c.118_119fs
1 paper
NM_000558.5
p.T40fs
c.118_119fs
16 papers
NM_000558.5
p.T40_K41del1
c.119_121delCCA
1 paper
NM_000558.5
p.T40insFs
c.119_120insT
1 paper
NM_000558.5
p.F37Y
c.110T>A
1 paper
NM_000558.5
p.F37S
c.110T>C
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