Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K140N

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.K140N
c.420A>C
Surrounding Variants
1 paper
NM_000517.6
p.K140N
c.420A>T
2 papers
NM_000517.6
p.K140R
c.419A>G
3 papers
NM_000517.6
p.Y141H
c.421T>C
1 paper
NM_000517.6
p.K140fs
c.418_419fs
4 papers
NM_000517.6
p.K140Q
c.418A>C
1 paper
NM_000517.6
p.Y141S
c.422A>C
2 papers
NM_000517.6
p.K140E
c.418A>G
1 paper
NM_000517.6
p.K140fs
c.418_419fs
3 papers
NM_000517.6
p.Y141*
c.423C>A
1 paper
NM_000517.6
p.Y141*
c.423C>G
1 paper
NM_000517.6
p.Y141Y
c.423C>T
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."