Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.F47delFs

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.F47delFs
c.141delC
Surrounding Variants
1 paper
NM_000558.5
p.F47L
c.139T>C
2 papers
NM_000558.5
p.F47V
c.139T>G
4 papers
NM_000558.5
p.H46Q
c.138C>A
3 papers
NM_000558.5
p.H46Q
c.138C>G
2 papers
NM_000558.5
p.H46H
c.138C>T
6 papers
NM_000558.5
p.D48N
c.142G>A
3 papers
NM_000558.5
p.D48H
c.142G>C
1 paper
NM_000558.5
p.D48fs
c.142_143fs
1 paper
NM_000558.5
p.H46P
c.137A>C
1 paper
NM_000558.5
p.D48A
c.143A>C
2 papers
NM_000558.5
p.H46R
c.137A>G
1 paper
NM_000558.5
p.D48G
c.143A>G
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