Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.R117G

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.R117G
c.349C>G
Surrounding Variants
15 papers
NM_000519.4
p.R117C
c.349C>T
1 paper
NM_000519.4
p.R117S
c.349C>A
4 papers
NM_000519.4
p.R117L
c.350G>T
2 papers
NM_000519.4
p.R117P
c.350G>C
13 papers
NM_000519.4
p.R117H
c.350G>A
3 papers
NM_000519.4
p.A116V
c.347C>T
2 papers
NM_000519.4
p.N118D
c.352A>G
2 papers
NM_000519.4
p.V114insFs
c.341_342dupTG
1 paper
NM_000519.4
p.G120D
c.359G>A
1 paper
NM_000519.4
p.K121T
c.362A>C
1 paper
NM_000519.4
p.K121K
c.363G>A
4 papers
NM_000519.4
p.E122Q
c.364G>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."