Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.V2E

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.V2E
c.5T>A
Surrounding Variants
2 papers
NM_000517.6
p.V2A
c.5T>C
2 papers
NM_000517.6
p.V2G
c.5T>G
4 papers
NM_000517.6
p.V2M
c.4G>A
3 papers
NM_000517.6
p.V2L
c.4G>C
1 paper
NM_000517.6
p.V2V
c.6G>C
1 paper
NM_000517.6
p.V2insFs
c.4_5insC
1 paper
NM_000517.6
p.L3insFs
c.7dupC
4 papers
NM_000517.6
p.V2L
c.4G>T
1 paper
NM_000517.6
p.V2V
c.6G>T
1 paper
NM_000517.6
p.L3insFs
c.7_8insTG
1 paper
NM_000517.6
p.M1I
c.3G>A
4 papers
NM_000517.6
p.M1I
c.3G>C
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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."