Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.A66T

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.A66T
c.196G>A
Surrounding Variants
2 papers
NM_000558.5
p.A66P
c.196G>C
4 papers
NM_000558.5
p.A66V
c.197C>T
1 paper
NM_000558.5
p.A66delFs
c.198delG
1 paper
NM_000558.5
p.D65A
c.194A>C
1 paper
NM_000558.5
p.D65G
c.194A>G
1 paper
NM_000558.5
p.T68_V74del7
c.202_221del21
8 papers
NM_000558.5
p.D65N
c.193G>A
18 papers
NM_000558.5
p.D65H
c.193G>C
3 papers
NM_000558.5
p.N69_A70ins4
c.207_208ins12
1 paper
NM_000558.5
p.D65Y
c.193G>T
1 paper
NM_000558.5
p.L67P
c.200T>C
1 paper
NM_000558.5
p.L67delFs
c.201delG
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