Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K91*

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.K91*
c.271A>T
Surrounding Variants
1 paper
NM_000558.5
p.K91E
c.271A>G
3 papers
NM_000558.5
p.K91T
c.272A>C
1 paper
NM_000558.5
p.K91R
c.272A>G
1 paper
NM_000558.5
p.K91M
c.272A>T
3 papers
NM_000558.5
p.H90Q
c.270C>A
4 papers
NM_000558.5
p.H90Q
c.270C>G
1 paper
NM_000558.5
p.K91_D95delFs
c.272_284del13
1 paper
NM_000558.5
p.H90P
c.269A>C
2 papers
NM_000558.5
p.H90R
c.269A>G
1 paper
NM_000558.5
p.H90L
c.269A>T
6 papers
NM_000558.5
p.K91N
c.273G>C
3 papers
NM_000558.5
p.K91N
c.273G>T
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