Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.L137P

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
3 papers
NM_000517.6
p.L137P
c.410T>C
Surrounding Variants
6 papers
NM_000517.6
p.L137M
c.409C>A
1 paper
NM_000517.6
p.T138I
c.413C>T
2 papers
NM_000517.6
p.V136E
c.407T>A
3 papers
NM_000517.6
p.T138T
c.414C>T
1 paper
NM_000517.6
p.T138_S139delins
c.414_416delinsTCT
1 paper
NM_000517.6
p.V136L
c.406G>C
1 paper
NM_000517.6
p.V136L
c.406G>T
1 paper
NM_000517.6
p.S139P
c.415T>C
1 paper
NM_000517.6
p.T135I
c.404C>T
1 paper
NM_000517.6
p.S139F
c.416C>T
1 paper
NM_000517.6
p.T135A
c.403A>G
7 papers
NM_000517.6
p.K140delFs
c.420delA
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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."