Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.A28P

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.A28P
c.82G>C
Surrounding Variants
36 papers
NM_000519.4
p.A28S
c.82G>T
1 paper
NM_000519.4
p.A28ins9
c.83_84ins27
1 paper
NM_000519.4
p.A28A
c.84C>T
1 paper
NM_000519.4
p.E27_A28insG
c.79_83ins3
5 papers
NM_000519.4
p.E27K
c.79G>A
2 papers
NM_000519.4
p.L29P
c.86T>C
3 papers
NM_000519.4
p.G26D
c.77G>A
1 paper
NM_000519.4
p.G30D
c.89G>A
2 papers
NM_000519.4
p.G25D
c.74G>A
1 paper
NM_000519.4
p.G30G
c.90C>G
4 papers
NM_000519.4
p.R31G
c.91A>G
2 papers
NM_000519.4
p.R31T
c.92G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."