Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.T42S

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
1 paper
NM_000517.6
p.T42S
c.125C>G
Surrounding Variants
2 papers
NM_000517.6
p.T42S
c.124A>T
1 paper
NM_000517.6
p.T42delFs
c.126delC
1 paper
NM_000517.6
p.T42fs
c.124_125fs
1 paper
NM_000517.6
p.K41N
c.123G>C
1 paper
NM_000517.6
p.K41N
c.123G>T
4 papers
NM_000517.6
p.T42_Y43delFs
c.126_129del4
1 paper
NM_000517.6
p.Y43N
c.127T>A
6 papers
NM_000517.6
p.Y43H
c.127T>C
1 paper
NM_000517.6
p.Y43D
c.127T>G
2 papers
NM_000517.6
p.K41M
c.122A>T
1 paper
NM_000517.6
p.Y43F
c.128A>T
3 papers
NM_000517.6
p.K41delFs
c.123delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."