Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.N79H

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
2 papers
NM_000558.5
p.N79H
c.235A>C
Surrounding Variants
1 paper
NM_000558.5
p.N79fs
c.235_236fs
1 paper
NM_000558.5
p.N79D
c.235A>G
3 papers
NM_000558.5
p.N79fs
c.235_236fs
7 papers
NM_000558.5
p.N79delFs
c.237delC
6 papers
NM_000558.5
p.N79K
c.237C>A
2 papers
NM_000558.5
p.P78H
c.233C>A
5 papers
NM_000558.5
p.N79K
c.237C>G
1 paper
NM_000558.5
p.P78R
c.233C>G
2 papers
NM_000558.5
p.P78S
c.232C>T
2 papers
NM_000558.5
p.A80T
c.238G>A
2 papers
NM_000558.5
p.A80G
c.239C>G
2 papers
NM_000558.5
p.A80V
c.239C>T
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