Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.V18F

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
5 papers
NM_000517.6
p.V18F
c.52G>T
Surrounding Variants
1 paper
NM_000517.6
p.V18I
c.52G>A
1 paper
NM_000517.6
p.V18L
c.52G>C
7 papers
NM_000517.6
p.K17N
c.51G>C
9 papers
NM_000517.6
p.K17N
c.51G>T
3 papers
NM_000517.6
p.V18D
c.53T>A
2 papers
NM_000517.6
p.V18delFs
c.54delC
6 papers
NM_000517.6
p.K17T
c.50A>C
2 papers
NM_000517.6
p.K17R
c.50A>G
3 papers
NM_000517.6
p.K17M
c.50A>T
23 papers
NM_000517.6
p.G19delFs
c.56delG
1 paper
NM_000517.6
p.K17_G19ins1
c.50_55dup6
3 papers
NM_000517.6
p.K17Q
c.49A>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."