Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.S50delFs

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.S50delFs
c.149_150delGC
Surrounding Variants
5 papers
NM_000517.6
p.S50R
c.148A>C
2 papers
NM_000517.6
p.S50fs
c.148_149fs
5 papers
NM_000517.6
p.S50_G58del0
c.149_172del24
10 papers
NM_000517.6
p.S50R
c.150C>A
6 papers
NM_000517.6
p.S50R
c.150C>G
1 paper
NM_000517.6
p.L49Q
c.146T>A
3 papers
NM_000517.6
p.L49R
c.146T>G
1 paper
NM_000517.6
p.L49insFs
c.146_147ins4
1 paper
NM_000517.6
p.H51N
c.151C>A
5 papers
NM_000517.6
p.H51D
c.151C>G
5 papers
NM_000517.6
p.H51Y
c.151C>T
1 paper
NM_000517.6
p.D48A
c.143A>C
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