Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.L107P

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.L107P
c.320T>C
Surrounding Variants
1 paper
NM_000517.6
p.L107M
c.319C>A
2 papers
NM_000517.6
p.V108L
c.322G>C
7 papers
NM_000517.6
p.V108delFs
c.323delT
1 paper
NM_000517.6
p.V108fs
c.322_323fs
1 paper
NM_000517.6
p.V108A
c.323T>C
1 paper
NM_000517.6
p.L106L
c.316C>T
1 paper
NM_000517.6
p.T109fs
c.325_326fs
1 paper
NM_000517.6
p.T109delFs
c.326delC
8 papers
NM_000517.6
p.T109N
c.326C>A
12 papers
NM_000517.6
p.C105Y
c.314G>A
4 papers
NM_000517.6
p.C105S
c.314G>C
2 papers
NM_000517.6
p.C105F
c.314G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."