Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.R32S

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.R32S
c.96G>C
Surrounding Variants
12 papers
NM_000517.6
p.R32Splc
c.95+1G>A
6 papers
NM_000517.6
p.R32Splc
c.95+1G>T
14 papers
NM_000517.6
p.R32K
c.95G>A
1 paper
NM_000517.6
p.R32Splc
c.96-116T>G
9 papers
NM_000517.6
p.R32R
c.94A>C
46 papers
NM_000517.6
p.R32G
c.94A>G
4 papers
NM_000517.6
p.R32W
c.94A>T
1 paper
NM_000517.6
p.E31D
c.93G>C
1 paper
NM_000517.6
p.E31D
c.93G>T
44 papers
NM_000517.6
p.E31G
c.92A>G
5 papers
NM_000517.6
p.R32Splc
c.95+5G>A
9 papers
NM_000517.6
p.E31K
c.91G>A
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