Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.S85delFs

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.S85delFs
c.253_254delAG
Surrounding Variants
2 papers
NM_000558.5
p.L84_S85insC
c.250_254ins3
2 papers
NM_000558.5
p.S85R
c.253A>C
2 papers
NM_000558.5
p.A83D
c.248C>A
3 papers
NM_000558.5
p.S85R
c.255C>A
3 papers
NM_000558.5
p.S85R
c.255C>G
1 paper
NM_000558.5
p.A83T
c.247G>A
3 papers
NM_000558.5
p.A83P
c.247G>C
4 papers
NM_000558.5
p.D86N
c.256G>A
1 paper
NM_000558.5
p.D86H
c.256G>C
1 paper
NM_000558.5
p.D86Y
c.256G>T
4 papers
NM_000558.5
p.S82C
c.245C>G
1 paper
NM_000558.5
p.A83_S85del0
c.247_255del9
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