Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K100_L101Splc

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
1 paper
NM_000558.5
p.K100_L101Splc
c.301-61T>C
Surrounding Variants
1 paper
NM_000558.5
p.K100_L101Splc
c.301-74G>T
1 paper
NM_000558.5
p.K100_L101Splc
c.301-81C>T
2 papers
NM_000558.5
p.K100_L101Splc
c.301-34G>A
1 paper
NM_000558.5
p.K100_L101Splc
c.300+58G>A
9 papers
NM_000558.5
p.K100_L101Splc
c.300+55G>T
2 papers
NM_000558.5
p.K100_L101Splc
c.301-24C>G
1 paper
NM_000558.5
p.K100_L101Splc
c.301-9T>C
1 paper
NM_000558.5
p.K100_L101Splc
c.300+35G>A
4 papers
NM_000558.5
p.K100_L101Splc
c.301-3C>G
3 papers
NM_000558.5
p.K100_L101Splc
c.301-2A>G
4 papers
NM_000558.5
p.K100_L101Splc
c.301-2A>T
28 papers
NM_000558.5
p.K100_L101Splc
c.301-1G>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."