Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.L81R

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
2 papers
NM_000558.5
p.L81R
c.242T>G
Surrounding Variants
1 paper
NM_000558.5
p.L81_A83del0
c.241_249del9
4 papers
NM_000558.5
p.S82C
c.245C>G
2 papers
NM_000558.5
p.A80G
c.239C>G
2 papers
NM_000558.5
p.A80V
c.239C>T
1 paper
NM_000558.5
p.A83_S85del0
c.247_255del9
2 papers
NM_000558.5
p.A80T
c.238G>A
6 papers
NM_000558.5
p.N79K
c.237C>A
5 papers
NM_000558.5
p.N79K
c.237C>G
1 paper
NM_000558.5
p.A83T
c.247G>A
3 papers
NM_000558.5
p.A83P
c.247G>C
7 papers
NM_000558.5
p.N79delFs
c.237delC
2 papers
NM_000558.5
p.A83D
c.248C>A
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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."