Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.H90L

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.H90L
c.269A>T
Surrounding Variants
1 paper
NM_000517.6
p.H90Q
c.270C>A
1 paper
NM_000517.6
p.H90D
c.268C>G
1 paper
NM_000517.6
p.H90Q
c.270C>G
3 papers
NM_000517.6
p.H90Y
c.268C>T
3 papers
NM_000517.6
p.K91_R93del3
c.271_278del9
2 papers
NM_000517.6
p.H90fs
c.268_269fs
1 paper
NM_000517.6
p.K91Q
c.271A>C
4 papers
NM_000517.6
p.K91*
c.271A>T
2 papers
NM_000517.6
p.K91_R93delFs
c.272_279del8
1 paper
NM_000517.6
p.H90_K91delFs
c.270_271delCA
4 papers
NM_000517.6
p.K91R
c.272A>G
2 papers
NM_000517.6
p.A89V
c.266C>T
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."