Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.D80N

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
2 papers
NM_000519.4
p.D80N
c.238G>A
Surrounding Variants
1 paper
NM_000519.4
p.N81K
c.243C>A
8 papers
NM_000519.4
p.H78R
c.233A>G
6 papers
NM_000519.4
p.L82F
c.244C>T
1 paper
NM_000519.4
p.H78Y
c.232C>T
1 paper
NM_000519.4
p.K83R
c.248A>G
2 papers
NM_000519.4
p.K83N
c.249G>T
1 paper
NM_000519.4
p.G84R
c.250G>C
1 paper
NM_000519.4
p.L76V
c.226C>G
2 papers
NM_000519.4
p.G84D
c.251G>A
5 papers
NM_000519.4
p.G75D
c.224G>A
1 paper
NM_000519.4
p.G75R
c.223G>C
3 papers
NM_000519.4
p.D74V
c.221A>T
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