Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.V71del1

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.V71del1
c.211_212delGTG
Surrounding Variants
1 paper
NM_000558.5
p.V71M
c.211G>A
1 paper
NM_000558.5
p.V71insFs
c.212_213insG
5 papers
NM_000558.5
p.N69K
c.207C>A
4 papers
NM_000558.5
p.N69K
c.207C>G
2 papers
NM_000558.5
p.N69H
c.205A>C
7 papers
NM_000558.5
p.N69D
c.205A>G
1 paper
NM_000558.5
p.N69fs
c.205_206fs
1 paper
NM_000558.5
p.A72E
c.215C>A
1 paper
NM_000558.5
p.A72G
c.215C>G
2 papers
NM_000558.5
p.A72V
c.215C>T
4 papers
NM_000558.5
p.A72_H73insFs
c.216_217insA
1 paper
NM_000558.5
p.H73insFs
c.217dupC
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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."