Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.D65E

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
2 papers
NM_000517.6
p.D65E
c.195C>G
Surrounding Variants
1 paper
NM_000517.6
p.D65E
c.195C>A
1 paper
NM_000517.6
p.D65G
c.194A>G
3 papers
NM_000517.6
p.A66T
c.196G>A
2 papers
NM_000517.6
p.A66_L67insT
c.196_200ins3
5 papers
NM_000517.6
p.A66V
c.197C>T
9 papers
NM_000517.6
p.D65N
c.193G>A
1 paper
NM_000517.6
p.D65H
c.193G>C
4 papers
NM_000517.6
p.A64D
c.191C>A
1 paper
NM_000517.6
p.L67M
c.199C>A
3 papers
NM_000517.6
p.A64V
c.191C>T
1 paper
NM_000517.6
p.T68_V74del7
c.202_221del21
2 papers
NM_000517.6
p.A64T
c.190G>A
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