Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.L92F

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
5 papers
NM_000517.6
p.L92F
c.274C>T
Surrounding Variants
4 papers
NM_000517.6
p.L92I
c.274C>A
1 paper
NM_000517.6
p.K91N
c.273G>C
8 papers
NM_000517.6
p.K91N
c.273G>T
4 papers
NM_000517.6
p.L92H
c.275T>A
10 papers
NM_000517.6
p.L92P
c.275T>C
5 papers
NM_000517.6
p.L92R
c.275T>G
4 papers
NM_000517.6
p.K91R
c.272A>G
1 paper
NM_000517.6
p.K91Q
c.271A>C
4 papers
NM_000517.6
p.K91*
c.271A>T
2 papers
NM_000517.6
p.K91_R93delFs
c.272_279del8
1 paper
NM_000517.6
p.R93G
c.277C>G
2 papers
NM_000517.6
p.R93W
c.277C>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."