Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K61E

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
4 papers
NM_000517.6
p.K61E
c.181A>G
Surrounding Variants
1 paper
NM_000517.6
p.G60G
c.180C>T
2 papers
NM_000517.6
p.K62del1
c.184_186delAAG
49 papers
NM_000517.6
p.G60D
c.179G>A
1 paper
NM_000517.6
p.G60A
c.179G>C
3 papers
NM_000517.6
p.G60V
c.179G>T
1 paper
NM_000517.6
p.K62_V63insT
c.184_188ins3
9 papers
NM_000517.6
p.K62*
c.184A>T
1 paper
NM_000517.6
p.G60S
c.178G>A
14 papers
NM_000517.6
p.G60R
c.178G>C
3 papers
NM_000517.6
p.K62T
c.185A>C
1 paper
NM_000517.6
p.V63delFs
c.187delG
1 paper
NM_000517.6
p.V63del1
c.187_189delGTG
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."