Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.H46P

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.H46P
c.137A>C
Surrounding Variants
2 papers
NM_000558.5
p.H46R
c.137A>G
4 papers
NM_000558.5
p.H46Q
c.138C>A
2 papers
NM_000558.5
p.H46N
c.136C>A
3 papers
NM_000558.5
p.H46Q
c.138C>G
2 papers
NM_000558.5
p.H46D
c.136C>G
2 papers
NM_000558.5
p.H46H
c.138C>T
1 paper
NM_000558.5
p.H46fs
c.136_137fs
2 papers
NM_000558.5
p.P45_H46insFs
c.135_136insT
1 paper
NM_000558.5
p.F47L
c.139T>C
2 papers
NM_000558.5
p.F47V
c.139T>G
1 paper
NM_000558.5
p.P45insFs
c.134_135insT
1 paper
NM_000558.5
p.P45R
c.134C>G
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