Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.L92P

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.L92P
c.275T>C
Surrounding Variants
2 papers
NM_000558.5
p.L92F
c.274C>T
1 paper
NM_000558.5
p.R93G
c.277C>G
1 paper
NM_000558.5
p.R93W
c.277C>T
6 papers
NM_000558.5
p.K91N
c.273G>C
3 papers
NM_000558.5
p.K91N
c.273G>T
3 papers
NM_000558.5
p.K91T
c.272A>C
1 paper
NM_000558.5
p.K91R
c.272A>G
1 paper
NM_000558.5
p.K91M
c.272A>T
4 papers
NM_000558.5
p.R93Q
c.278G>A
2 papers
NM_000558.5
p.V94_K100ins2
c.280_300dup21
1 paper
NM_000558.5
p.R93L
c.278G>T
1 paper
NM_000558.5
p.K91E
c.271A>G
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