Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.P115L

HBA2

1,116 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) ...

Pfam Domains

Globinaa 27–137UCSCGlobin
Globinaa 27–137UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit alpha 2

HGNC Alias Symbol

HBA-T2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000517.6
p.P115L
c.344C>T
Surrounding Variants
1 paper
NM_000517.6
p.P115T
c.343C>A
2 papers
NM_000517.6
p.P115A
c.343C>G
3 papers
NM_000517.6
p.P115S
c.343C>T
2 papers
NM_000517.6
p.A116del1
c.346_348delGCC
1 paper
NM_000517.6
p.L114delins
c.342delinsAAGTAGA
2 papers
NM_000517.6
p.A116fs
c.346_347fs
3 papers
NM_000517.6
p.A116fs
c.346_347fs
4 papers
NM_000517.6
p.E117_P120delFs
c.349_359del11
1 paper
NM_000517.6
p.A116D
c.347C>A
2 papers
NM_000517.6
p.L114H
c.341T>A
1 paper
NM_000517.6
p.L114R
c.341T>G
4 papers
NM_000517.6
p.P115insFs
c.343_344insCC
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