Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.L137Q

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.L137Q
c.410T>A
Surrounding Variants
1 paper
NM_000558.5
p.L137P
c.410T>C
1 paper
NM_000558.5
p.T138P
c.412A>C
1 paper
NM_000558.5
p.T138A
c.412A>G
1 paper
NM_000558.5
p.V136M
c.406G>A
1 paper
NM_000558.5
p.V136L
c.406G>C
1 paper
NM_000558.5
p.V136fs
c.406_407fs
1 paper
NM_000558.5
p.S139P
c.415T>C
1 paper
NM_000558.5
p.S139C
c.416C>G
1 paper
NM_000558.5
p.T135I
c.404C>T
3 papers
NM_000558.5
p.T135delFs
c.404delC
1 paper
NM_000558.5
p.K140E
c.418A>G
2 papers
NM_000558.5
p.K140*
c.418A>T
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