Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.A89E

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.A89E
c.266C>A
Surrounding Variants
1 paper
NM_000558.5
p.A89S
c.265G>T
1 paper
NM_000558.5
p.H90_K91delFs
c.270_271delCA
2 papers
NM_000558.5
p.H88Q
c.264C>A
6 papers
NM_000558.5
p.H88Q
c.264C>G
2 papers
NM_000558.5
p.H90Y
c.268C>T
3 papers
NM_000558.5
p.H88P
c.263A>C
1 paper
NM_000558.5
p.H90P
c.269A>C
2 papers
NM_000558.5
p.H88R
c.263A>G
2 papers
NM_000558.5
p.H90R
c.269A>G
1 paper
NM_000558.5
p.H90L
c.269A>T
3 papers
NM_000558.5
p.H90Q
c.270C>A
1 paper
NM_000558.5
p.H88N
c.262C>A
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