Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.A22P

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
7 papers
NM_000558.5
p.A22P
c.64G>C
Surrounding Variants
1 paper
NM_000558.5
p.A22T
c.64G>A
2 papers
NM_000558.5
p.A22S
c.64G>T
1 paper
NM_000558.5
p.A22fs
c.64_65fs
4 papers
NM_000558.5
p.H21Q
c.63C>A
3 papers
NM_000558.5
p.A22D
c.65C>A
3 papers
NM_000558.5
p.H21Q
c.63C>G
1 paper
NM_000558.5
p.A22V
c.65C>T
2 papers
NM_000558.5
p.H21insFs
c.62_63insT
4 papers
NM_000558.5
p.H21P
c.62A>C
3 papers
NM_000558.5
p.H21R
c.62A>G
1 paper
NM_000558.5
p.H21fs
c.61_62fs
1 paper
NM_000558.5
p.H21Y
c.61C>T
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