Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.H51Y

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
3 papers
NM_000558.5
p.H51Y
c.151C>T
Surrounding Variants
1 paper
NM_000558.5
p.H51R
c.152A>G
2 papers
NM_000558.5
p.H51L
c.152A>T
4 papers
NM_000558.5
p.S50R
c.150C>A
2 papers
NM_000558.5
p.S50R
c.150C>G
1 paper
NM_000558.5
p.H51Q
c.153C>A
2 papers
NM_000558.5
p.H51Q
c.153C>G
1 paper
NM_000558.5
p.S50N
c.149G>A
1 paper
NM_000558.5
p.S53_G60ins2
c.157_180dup24
6 papers
NM_000558.5
p.S50R
c.148A>C
3 papers
NM_000558.5
p.S53_G60del0
c.157_180del24
11 papers
NM_000558.5
p.G52S
c.154G>A
3 papers
NM_000558.5
p.G52R
c.154G>C
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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."