Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.L87P

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.L87P
c.260T>C
Surrounding Variants
1 paper
NM_000558.5
p.L87R
c.260T>G
1 paper
NM_000558.5
p.L87delFs
c.261delG
1 paper
NM_000558.5
p.L87V
c.259C>G
1 paper
NM_000558.5
p.H88N
c.262C>A
2 papers
NM_000558.5
p.H88D
c.262C>G
3 papers
NM_000558.5
p.H88Y
c.262C>T
1 paper
NM_000558.5
p.H88delFs
c.263delA
3 papers
NM_000558.5
p.H88P
c.263A>C
2 papers
NM_000558.5
p.H88R
c.263A>G
2 papers
NM_000558.5
p.H88Q
c.264C>A
6 papers
NM_000558.5
p.H88Q
c.264C>G
4 papers
NM_000558.5
p.D86N
c.256G>A
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