Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.A131P

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
16 papers
NM_000517.6
p.A131P
c.391G>C
Surrounding Variants
2 papers
NM_000517.6
p.A131D
c.392C>A
1 paper
NM_000517.6
p.A131V
c.392C>T
5 papers
NM_000517.6
p.L130P
c.389T>C
1 paper
NM_000517.6
p.L130R
c.389T>G
1 paper
NM_000517.6
p.L130fs
c.388_389fs
5 papers
NM_000517.6
p.S132P
c.394T>C
2 papers
NM_000517.6
p.S132_V133insFs
c.396_397insT
5 papers
NM_000517.6
p.S132C
c.395C>G
6 papers
NM_000517.6
p.L130delFs
c.388delC
1 paper
NM_000517.6
p.V133insFs
c.398_399insT
1 paper
NM_000517.6
p.F129L
c.385T>C
3 papers
NM_000517.6
p.K128N
c.384G>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."