Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.A20V

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.A20V
c.59C>T
Surrounding Variants
3 papers
NM_000558.5
p.A20E
c.59C>A
2 papers
NM_000558.5
p.A20delFs
c.60delG
1 paper
NM_000558.5
p.H21delFs
c.61delC
1 paper
NM_000558.5
p.H21fs
c.61_62fs
1 paper
NM_000558.5
p.H21Y
c.61C>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.G19D
c.56G>A
4 papers
NM_000558.5
p.H21Q
c.63C>A
3 papers
NM_000558.5
p.H21Q
c.63C>G
2 papers
NM_000558.5
p.G19S
c.55G>A
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