Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.R32Splc

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
7 papers
NM_000558.5
p.R32Splc
c.96-2A>G
Surrounding Variants
33 papers
NM_000558.5
p.R32Splc
c.96-1G>A
4 papers
NM_000558.5
p.R32Splc
c.96-1G>C
32 papers
NM_000558.5
p.R32Splc
c.96-1G>T
4 papers
NM_000558.5
p.R32R
c.96G>A
1 paper
NM_000558.5
p.R32Splc
c.96-4G>A
1 paper
NM_000558.5
p.R32Splc
c.96-6C>T
19 papers
NM_000558.5
p.M33K
c.98T>A
4 papers
NM_000558.5
p.M33T
c.98T>C
2 papers
NM_000558.5
p.M33R
c.98T>G
10 papers
NM_000558.5
p.M33I
c.99G>A
2 papers
NM_000558.5
p.M33I
c.99G>C
2 papers
NM_000558.5
p.M33I
c.99G>T
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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."