Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.W16R

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.W16R
c.46T>C
Surrounding Variants
3 papers
NM_000519.4
p.W16*
c.47G>A
2 papers
NM_000519.4
p.L15P
c.44T>C
1 paper
NM_000519.4
p.W16C
c.48G>C
2 papers
NM_000519.4
p.W16*
c.48G>A
24 papers
NM_000519.4
p.G17R
c.49G>C
2 papers
NM_000519.4
p.A14D
c.41C>A
1 paper
NM_000519.4
p.K18E
c.52A>G
1 paper
NM_000519.4
p.K18Q
c.52A>C
4 papers
NM_000519.4
p.N13K
c.39T>G
9 papers
NM_000519.4
p.N13K
c.39T>A
1 paper
NM_000519.4
p.K18T
c.53A>C
2 papers
NM_000519.4
p.V19G
c.56T>G
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