Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.V21insFs

HBD

299 papers

RefSeq Summary

The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. ...

Pfam Domains

Globinaa 26–142UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit delta

HGNC Alias Symbol

HBK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000519.4
p.V21insFs
c.62_63insT
Surrounding Variants
1 paper
NM_000519.4
p.V21E
c.62T>A
1 paper
NM_000519.4
p.V21M
c.61G>A
4 papers
NM_000519.4
p.D22G
c.65A>G
1 paper
NM_000519.4
p.N20K
c.60C>G
4 papers
NM_000519.4
p.N20K
c.60C>A
3 papers
NM_000519.4
p.A23P
c.67G>C
2 papers
NM_000519.4
p.A23T
c.67G>A
8 papers
NM_000519.4
p.A23V
c.68C>T
6 papers
NM_000519.4
p.A23E
c.68C>A
2 papers
NM_000519.4
p.V19G
c.56T>G
1 paper
NM_000519.4
p.V24I
c.70G>A
1 paper
NM_000519.4
p.K18T
c.53A>C
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