Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.*143K

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
26 papers
NM_000517.6
p.*143K
c.427T>A
Surrounding Variants
334 papers
NM_000517.6
p.*143Q
c.427T>C
7 papers
NM_000517.6
p.*143E
c.427T>G
18 papers
NM_000517.6
p.*143S
c.428A>C
4 papers
NM_000517.6
p.*143L
c.428A>T
66 papers
NM_000517.6
p.*143Y
c.429A>T
3 papers
NM_000517.6
p.R142H
c.425G>A
3 papers
NM_000517.6
p.R142P
c.425G>C
3 papers
NM_000517.6
p.R142G
c.424C>G
4 papers
NM_000517.6
p.R142C
c.424C>T
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
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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."