Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.N69D

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
7 papers
NM_000558.5
p.N69D
c.205A>G
Surrounding Variants
2 papers
NM_000558.5
p.N69H
c.205A>C
1 paper
NM_000558.5
p.N69fs
c.205_206fs
5 papers
NM_000558.5
p.N69K
c.207C>A
4 papers
NM_000558.5
p.N69K
c.207C>G
1 paper
NM_000558.5
p.T68I
c.203C>T
1 paper
NM_000558.5
p.T68fs
c.202_203fs
1 paper
NM_000558.5
p.T68delFs
c.202delA
1 paper
NM_000558.5
p.V71del1
c.211_212delGTG
1 paper
NM_000558.5
p.L67P
c.200T>C
1 paper
NM_000558.5
p.L67delFs
c.201delG
1 paper
NM_000558.5
p.T68_V74del7
c.202_221del21
1 paper
NM_000558.5
p.V71M
c.211G>A
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