Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K12N

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.K12N
c.36G>C
Surrounding Variants
1 paper
NM_000558.5
p.K12K
c.36G>A
1 paper
NM_000558.5
p.K12N
c.36G>T
1 paper
NM_000558.5
p.A13T
c.37G>A
2 papers
NM_000558.5
p.A13P
c.37G>C
1 paper
NM_000558.5
p.K12insFs
c.34_35insC
5 papers
NM_000558.5
p.K12Q
c.34A>C
1 paper
NM_000558.5
p.K12E
c.34A>G
1 paper
NM_000558.5
p.K12*
c.34A>T
4 papers
NM_000558.5
p.A13D
c.38C>A
2 papers
NM_000558.5
p.V11V
c.33C>A
10 papers
NM_000558.5
p.A13A
c.39C>T
4 papers
NM_000558.5
p.A14T
c.40G>A
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