Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.E28_A29insFs

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
5 papers
NM_000517.6
p.E28_A29insFs
c.84_85insC
Surrounding Variants
9 papers
NM_000517.6
p.E28D
c.84G>C
3 papers
NM_000517.6
p.E28D
c.84G>T
3 papers
NM_000517.6
p.E28G
c.83A>G
3 papers
NM_000517.6
p.E28V
c.83A>T
2 papers
NM_000517.6
p.A29delFs
c.85delG
1 paper
NM_000517.6
p.A29T
c.85G>A
1 paper
NM_000517.6
p.A29fs
c.85_86fs
1 paper
NM_000517.6
p.A29S
c.85G>T
1 paper
NM_000517.6
p.A29fs
c.85_86fs
1 paper
NM_000517.6
p.A29D
c.86C>A
1 paper
NM_000517.6
p.A29G
c.86C>G
7 papers
NM_000517.6
p.E28K
c.82G>A
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