Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.D75H

HBA1

827 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) ...

Gene Aliases

HGNC Name

hemoglobin subunit alpha 1

HGNC Alias Symbol

HBA-T3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
67 papers
NM_000558.5
p.D75H
c.223G>C
Surrounding Variants
7 papers
NM_000558.5
p.D75N
c.223G>A
5 papers
NM_000558.5
p.D75Y
c.223G>T
3 papers
NM_000558.5
p.D75A
c.224A>C
5 papers
NM_000558.5
p.D75G
c.224A>G
4 papers
NM_000558.5
p.D75V
c.224A>T
2 papers
NM_000558.5
p.D76del1
c.226_228delGAC
1 paper
NM_000558.5
p.D75E
c.225C>G
4 papers
NM_000558.5
p.D76N
c.226G>A
1 paper
NM_000558.5
p.V74M
c.220G>A
6 papers
NM_000558.5
p.D76H
c.226G>C
1 paper
NM_000558.5
p.V74L
c.220G>C
3 papers
NM_000558.5
p.D76Y
c.226G>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."