Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.E122K

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
3 papers
NM_000519.4
p.E122K
c.364G>A
Surrounding Variants
4 papers
NM_000519.4
p.E122Q
c.364G>C
1 paper
NM_000519.4
p.K121K
c.363G>A
1 paper
NM_000519.4
p.E122V
c.365A>T
1 paper
NM_000519.4
p.K121T
c.362A>C
1 paper
NM_000519.4
p.G120D
c.359G>A
1 paper
NM_000519.4
p.F123L
c.369C>G
1 paper
NM_000519.4
p.P125L
c.374C>T
1 paper
NM_000519.4
p.P125P
c.375A>T
2 papers
NM_000519.4
p.N118D
c.352A>G
1 paper
NM_000519.4
p.Q126R
c.377A>G
4 papers
NM_000519.4
p.R117L
c.350G>T
2 papers
NM_000519.4
p.R117P
c.350G>C
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