Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.R31T

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.R31T
c.92G>C
Surrounding Variants
1 paper
NM_000519.4
p.R31Splc
c.92+1G>T
2 papers
NM_000519.4
p.R31Splc
c.92+1G>A
4 papers
NM_000519.4
p.R31G
c.91A>G
1 paper
NM_000519.4
p.R31Splc
c.92+2T>G
3 papers
NM_000519.4
p.R31Splc
c.92+2T>C
1 paper
NM_000519.4
p.G30G
c.90C>G
1 paper
NM_000519.4
p.G30D
c.89G>A
3 papers
NM_000519.4
p.R31Splc
c.92+5G>T
2 papers
NM_000519.4
p.R31Splc
c.92+5G>C
4 papers
NM_000519.4
p.R31Splc
c.92+6T>C
2 papers
NM_000519.4
p.L29P
c.86T>C
1 paper
NM_000519.4
p.A28A
c.84C>T
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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."