Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.S132delFs

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.S132delFs
c.396delT
Surrounding Variants
17 papers
NM_000558.5
p.S132_V133insFs
c.396_397insT
2 papers
NM_000558.5
p.S132F
c.395C>T
2 papers
NM_000558.5
p.S132P
c.394T>C
2 papers
NM_000558.5
p.S132S
c.396T>C
1 paper
NM_000558.5
p.S132fs
c.394_395fs
2 papers
NM_000558.5
p.V133M
c.397G>A
1 paper
NM_000558.5
p.V133fs
c.397_398fs
2 papers
NM_000558.5
p.A131_S132insFs
c.393_394insT
4 papers
NM_000558.5
p.A131V
c.392C>T
1 paper
NM_000558.5
p.V133A
c.398T>C
1 paper
NM_000558.5
p.V133G
c.398T>G
1 paper
NM_000558.5
p.V133insFs
c.398_399insG
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