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
4 papers
NM_000517.6
p.R32S
c.96G>T
Surrounding Variants
3 papers
NM_000517.6
p.R32R
c.96G>A
3 papers
NM_000517.6
p.R32S
c.96G>C
40 papers
NM_000517.6
p.R32Splc
c.96-1G>A
2 papers
NM_000517.6
p.R32Splc
c.96-1G>C
37 papers
NM_000517.6
p.R32Splc
c.96-1G>T
12 papers
NM_000517.6
p.R32Splc
c.96-2A>G
6 papers
NM_000517.6
p.M33T
c.98T>C
7 papers
NM_000517.6
p.M33R
c.98T>G
2 papers
NM_000517.6
p.M33I
c.99G>A
2 papers
NM_000517.6
p.M33I
c.99G>C
2 papers
NM_000517.6
p.M33I
c.99G>T
1 paper
NM_000517.6
p.R32Splc
c.96-4G>A
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