Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.M1I

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.M1I
c.3G>T
Surrounding Variants
1 paper
NM_000558.5
p.V2M
c.4G>A
1 paper
NM_000558.5
p.V2L
c.4G>C
1 paper
NM_000558.5
p.V2insFs
c.4_5insC
2 papers
NM_000558.5
p.L3_S4ins1
c.9_10insCTG
4 papers
NM_000558.5
p.V2L
c.4G>T
8 papers
NM_000558.5
p.M1K
c.2T>A
8 papers
NM_000558.5
p.M1T
c.2T>C
3 papers
NM_000558.5
p.M1R
c.2T>G
5 papers
NM_000558.5
p.M1insFs
c.3dupG
2 papers
NM_000558.5
p.M1fs
c.1_2fs
1 paper
NM_000558.5
p.M1L
c.1A>C
12 papers
NM_000558.5
p.M1V
c.1A>G
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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."