Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.L35R

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
7 papers
NM_000517.6
p.L35R
c.104T>G
Surrounding Variants
5 papers
NM_000517.6
p.L35P
c.104T>C
1 paper
NM_000517.6
p.L35M
c.103C>A
1 paper
NM_000517.6
p.F34L
c.102C>A
1 paper
NM_000517.6
p.F34L
c.102C>G
10 papers
NM_000517.6
p.S36P
c.106T>C
1 paper
NM_000517.6
p.S36Y
c.107C>A
1 paper
NM_000517.6
p.S36F
c.107C>T
4 papers
NM_000517.6
p.F34S
c.101T>C
1 paper
NM_000517.6
p.F34L
c.100T>C
2 papers
NM_000517.6
p.M33I
c.99G>A
2 papers
NM_000517.6
p.M33I
c.99G>C
2 papers
NM_000517.6
p.M33I
c.99G>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."