Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.V56L

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.V56L
c.166G>C
Surrounding Variants
4 papers
NM_000517.6
p.V56insFs
c.168dupT
1 paper
NM_000517.6
p.V56delFs
c.167delT
5 papers
NM_000517.6
p.V56A
c.167T>C
1 paper
NM_000517.6
p.V56G
c.167T>G
6 papers
NM_000517.6
p.Q55R
c.164A>G
1 paper
NM_000517.6
p.V56delFs
c.166delG
1 paper
NM_000517.6
p.Q55_V56Fs
c.164_168delinsGGCATCAFs
1 paper
NM_000517.6
p.Q55_H59delFs
c.165_177del13
2 papers
NM_000517.6
p.K57delFs
c.169_170delAA
5 papers
NM_000517.6
p.K57E
c.169A>G
1 paper
NM_000517.6
p.K57*
c.169A>T
1 paper
NM_000517.6
p.K57fs
c.169_170fs
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