Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.V56delFs

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.V56delFs
c.167delT
Surrounding Variants
1 paper
NM_000558.5
p.V56I
c.166G>A
3 papers
NM_000558.5
p.V56L
c.166G>C
1 paper
NM_000558.5
p.K57_G58ins8
c.171_172ins24
2 papers
NM_000558.5
p.V56A
c.167T>C
1 paper
NM_000558.5
p.V56G
c.167T>G
2 papers
NM_000558.5
p.Q55R
c.164A>G
1 paper
NM_000558.5
p.K57E
c.169A>G
3 papers
NM_000558.5
p.Q55E
c.163C>G
1 paper
NM_000558.5
p.K57_G58ins8
c.171_172ins24
5 papers
NM_000558.5
p.K57T
c.170A>C
1 paper
NM_000558.5
p.K57R
c.170A>G
1 paper
NM_000558.5
p.A54D
c.161C>A
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