Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.F118_T119ins1

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
4 papers
NM_000558.5
p.F118_T119ins1
c.354_355insTCA
Surrounding Variants
1 paper
NM_000558.5
p.F118_T119insFs
c.354_355insAT
2 papers
NM_000558.5
p.T119_A121del3
c.355_362del9
1 paper
NM_000558.5
p.T119_P120insT
c.355_359ins3
1 paper
NM_000558.5
p.P120delFs
c.359delC
1 paper
NM_000558.5
p.F118delFs
c.354delC
1 paper
NM_000558.5
p.T119N
c.356C>A
1 paper
NM_000558.5
p.T119I
c.356C>T
13 papers
NM_000558.5
p.F118_T119ins0
c.353_355dupTCA
2 papers
NM_000558.5
p.T119_P120ins1
c.357_358insTCA
1 paper
NM_000558.5
p.E117D
c.351G>T
2 papers
NM_000558.5
p.F118_P120del3
c.352_359del9
2 papers
NM_000558.5
p.E117A
c.350A>C
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