Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.A20E

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
4 papers
NM_000517.6
p.A20E
c.59C>A
Surrounding Variants
17 papers
NM_000517.6
p.A20V
c.59C>T
12 papers
NM_000517.6
p.A20delFs
c.60delG
1 paper
NM_000517.6
p.A20P
c.58G>C
1 paper
NM_000517.6
p.H21delFs
c.61delC
1 paper
NM_000517.6
p.H21fs
c.61_62fs
3 papers
NM_000517.6
p.H21D
c.61C>G
1 paper
NM_000517.6
p.H21Y
c.61C>T
2 papers
NM_000517.6
p.H21fs
c.61_62fs
1 paper
NM_000517.6
p.H21insFs
c.62_63insT
1 paper
NM_000517.6
p.H21P
c.62A>C
3 papers
NM_000517.6
p.H21R
c.62A>G
1 paper
NM_000517.6
p.H21L
c.62A>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."