Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.S82F

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.S82F
c.245C>T
Surrounding Variants
2 papers
NM_000517.6
p.S82Y
c.245C>A
3 papers
NM_000517.6
p.S82P
c.244T>C
1 paper
NM_000517.6
p.S82A
c.244T>G
1 paper
NM_000517.6
p.S82fs
c.244_245fs
1 paper
NM_000517.6
p.A83P
c.247G>C
3 papers
NM_000517.6
p.S82delFs
c.244delT
2 papers
NM_000517.6
p.A83D
c.248C>A
3 papers
NM_000517.6
p.L81R
c.242T>G
2 papers
NM_000517.6
p.L81V
c.241C>G
1 paper
NM_000517.6
p.L81delFs
c.242delT
8 papers
NM_000517.6
p.L84_S85insC
c.250_254ins3
6 papers
NM_000517.6
p.A80G
c.239C>G
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