Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.K17M

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
5 papers
NM_000558.5
p.K17M
c.50A>T
Surrounding Variants
3 papers
NM_000558.5
p.K17T
c.50A>C
1 paper
NM_000558.5
p.K17_G19ins1
c.50_55dup6
2 papers
NM_000558.5
p.K17E
c.49A>G
2 papers
NM_000558.5
p.K17*
c.49A>T
4 papers
NM_000558.5
p.K17N
c.51G>C
2 papers
NM_000558.5
p.K17N
c.51G>T
1 paper
NM_000558.5
p.V18I
c.52G>A
7 papers
NM_000558.5
p.G16D
c.47G>A
2 papers
NM_000558.5
p.G16A
c.47G>C
1 paper
NM_000558.5
p.G16S
c.46G>A
12 papers
NM_000558.5
p.G16R
c.46G>C
2 papers
NM_000558.5
p.G16C
c.46G>T
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