Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.L3L

HBA2

1,116 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) ...

Pfam Domains

Globinaa 27–137UCSCGlobin
Globinaa 27–137UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit alpha 2

HGNC Alias Symbol

HBA-T2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000517.6
p.L3L
c.9G>A
Surrounding Variants
1 paper
NM_000517.6
p.L3L
c.9G>C
2 papers
NM_000517.6
p.L3P
c.8T>C
1 paper
NM_000517.6
p.S4P
c.10T>C
1 paper
NM_000517.6
p.L3R
c.8T>G
1 paper
NM_000517.6
p.L3_S4insFs
c.9_10insG
1 paper
NM_000517.6
p.S4_V11delFs
c.12_33del22
3 papers
NM_000517.6
p.S4Y
c.11C>A
1 paper
NM_000517.6
p.L3insFs
c.7_8insTG
1 paper
NM_000517.6
p.S4C
c.11C>G
2 papers
NM_000517.6
p.S4F
c.11C>T
1 paper
NM_000517.6
p.V2V
c.6G>C
1 paper
NM_000517.6
p.L3insFs
c.7dupC
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