Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K41N

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.K41N
c.123G>C
Surrounding Variants
3 papers
NM_000558.5
p.K41N
c.123G>T
2 papers
NM_000558.5
p.T42_Y43delFs
c.126_129del4
1 paper
NM_000558.5
p.K41T
c.122A>C
1 paper
NM_000558.5
p.T42S
c.124A>T
1 paper
NM_000558.5
p.T42delFs
c.126delC
1 paper
NM_000558.5
p.K41E
c.121A>G
1 paper
NM_000558.5
p.T42S
c.125C>G
1 paper
NM_000558.5
p.T40insFs
c.119_120insT
3 papers
NM_000558.5
p.Y43H
c.127T>C
1 paper
NM_000558.5
p.T40fs
c.118_119fs
1 paper
NM_000558.5
p.Y43S
c.128A>C
1 paper
NM_000558.5
p.Y43F
c.128A>T
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