Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.L102P

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
2 papers
NM_000517.6
p.L102P
c.305T>C
Surrounding Variants
6 papers
NM_000517.6
p.S103R
c.307A>C
2 papers
NM_000517.6
p.S103N
c.308G>A
5 papers
NM_000517.6
p.S103R
c.309C>A
4 papers
NM_000517.6
p.S103R
c.309C>G
1 paper
NM_000517.6
p.H104N
c.310C>A
2 papers
NM_000517.6
p.H104Y
c.310C>T
28 papers
NM_000517.6
p.K100_L101Splc
c.301-1G>A
1 paper
NM_000517.6
p.K100_L101Splc
c.301-1G>C
2 papers
NM_000517.6
p.K100_L101Splc
c.301-2A>G
1 paper
NM_000517.6
p.H104R
c.311A>G
4 papers
NM_000517.6
p.H104L
c.311A>T
6 papers
NM_000517.6
p.C105S
c.313T>A
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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."