Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.L107P

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
3 papers
NM_000558.5
p.L107P
c.320T>C
Surrounding Variants
1 paper
NM_000558.5
p.T109fs
c.325_326fs
1 paper
NM_000558.5
p.T109P
c.325A>C
11 papers
NM_000558.5
p.T109delFs
c.326delC
1 paper
NM_000558.5
p.T109fs
c.325_326fs
2 papers
NM_000558.5
p.C105W
c.315C>G
6 papers
NM_000558.5
p.T109N
c.326C>A
1 paper
NM_000558.5
p.T109I
c.326C>T
3 papers
NM_000558.5
p.C105Y
c.314G>A
2 papers
NM_000558.5
p.C105S
c.314G>C
4 papers
NM_000558.5
p.C105S
c.313T>A
3 papers
NM_000558.5
p.L110fs
c.328_329fs
1 paper
NM_000558.5
p.H104P
c.311A>C
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