Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.T39N

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.T39N
c.116C>A
Surrounding Variants
1 paper
NM_000517.6
p.T39I
c.116C>T
1 paper
NM_000517.6
p.T39S
c.115A>T
1 paper
NM_000517.6
p.T39fs
c.115_116fs
1 paper
NM_000517.6
p.T40insFs
c.118_119insA
1 paper
NM_000517.6
p.T40fs
c.118_119fs
2 papers
NM_000517.6
p.T40fs
c.118_119fs
2 papers
NM_000517.6
p.T40_T42Fs
c.118_124delinsTACTTCFs
2 papers
NM_000517.6
p.T40_T42del0
c.118_126del9
3 papers
NM_000517.6
p.P38R
c.113C>G
4 papers
NM_000517.6
p.P38L
c.113C>T
1 paper
NM_000517.6
p.T40I
c.119C>T
1 paper
NM_000517.6
p.K41_H46del6
c.121_137del18
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