Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K128T

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.K128T
c.383A>C
Surrounding Variants
4 papers
NM_000517.6
p.K128R
c.383A>G
1 paper
NM_000517.6
p.K128M
c.383A>T
5 papers
NM_000517.6
p.K128E
c.382A>G
6 papers
NM_000517.6
p.K128*
c.382A>T
3 papers
NM_000517.6
p.K128N
c.384G>C
3 papers
NM_000517.6
p.K128N
c.384G>T
1 paper
NM_000517.6
p.F129L
c.385T>C
3 papers
NM_000517.6
p.D127G
c.380A>G
6 papers
NM_000517.6
p.L130delFs
c.388delC
5 papers
NM_000517.6
p.D127N
c.379G>A
2 papers
NM_000517.6
p.D127Y
c.379G>T
1 paper
NM_000517.6
p.D127fs
c.379_380fs
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."