Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K8N

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.K8N
c.24G>T
Surrounding Variants
1 paper
NM_000558.5
p.K8N
c.24G>C
1 paper
NM_000558.5
p.T9delFs
c.25_26delAC
1 paper
NM_000558.5
p.T9insFs
c.27dupC
2 papers
NM_000558.5
p.T9_N10insCTG
c.25_29ins9
4 papers
NM_000558.5
p.K8delins
c.24delinsG
2 papers
NM_000558.5
p.K8E
c.22A>G
1 paper
NM_000558.5
p.T9N
c.26C>A
1 paper
NM_000558.5
p.D7E
c.21C>A
2 papers
NM_000558.5
p.T9_N10insFs
c.27_28insG
1 paper
NM_000558.5
p.D7E
c.21C>G
1 paper
NM_000558.5
p.N10insFs
c.28_29insG
1 paper
NM_000558.5
p.D7A
c.20A>C
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