Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.P78A

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
1 paper
NM_000517.6
p.P78A
c.232C>G
Surrounding Variants
1 paper
NM_000517.6
p.P78T
c.232C>A
1 paper
NM_000517.6
p.P78S
c.232C>T
4 papers
NM_000517.6
p.P78H
c.233C>A
1 paper
NM_000517.6
p.P78L
c.233C>T
1 paper
NM_000517.6
p.M77I
c.231G>A
1 paper
NM_000517.6
p.M77I
c.231G>C
1 paper
NM_000517.6
p.M77I
c.231G>T
3 papers
NM_000517.6
p.M77T
c.230T>C
1 paper
NM_000517.6
p.N79fs
c.235_236fs
2 papers
NM_000517.6
p.N79H
c.235A>C
1 paper
NM_000517.6
p.M77V
c.229A>G
1 paper
NM_000517.6
p.N79D
c.235A>G
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