Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.E31Q

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
30 papers
NM_000517.6
p.E31Q
c.91G>C
Surrounding Variants
9 papers
NM_000517.6
p.E31K
c.91G>A
44 papers
NM_000517.6
p.E31G
c.92A>G
1 paper
NM_000517.6
p.L30L
c.90G>C
1 paper
NM_000517.6
p.L30L
c.90G>T
2 papers
NM_000517.6
p.R32delFs
c.94_95delAG
1 paper
NM_000517.6
p.E31D
c.93G>C
1 paper
NM_000517.6
p.E31D
c.93G>T
23 papers
NM_000517.6
p.L30P
c.89T>C
33 papers
NM_000517.6
p.E31del1
c.91_93delGAG
9 papers
NM_000517.6
p.R32R
c.94A>C
46 papers
NM_000517.6
p.R32G
c.94A>G
4 papers
NM_000517.6
p.R32W
c.94A>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."