Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.F37V

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.F37V
c.109T>G
Surrounding Variants
1 paper
NM_000517.6
p.F37L
c.109T>C
1 paper
NM_000517.6
p.F37S
c.110T>C
3 papers
NM_000517.6
p.P38delFs
c.112delC
1 paper
NM_000517.6
p.P38del1
c.112_114delCCC
1 paper
NM_000517.6
p.S36Y
c.107C>A
1 paper
NM_000517.6
p.F37L
c.111C>A
1 paper
NM_000517.6
p.F37L
c.111C>G
1 paper
NM_000517.6
p.S36F
c.107C>T
2 papers
NM_000517.6
p.P38S
c.112C>T
2 papers
NM_000517.6
p.T40del1
c.118_120delACC
10 papers
NM_000517.6
p.S36P
c.106T>C
3 papers
NM_000517.6
p.P38R
c.113C>G
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