Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.H144R

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.H144R
c.431A>G
Surrounding Variants
3 papers
NM_000519.4
p.H144Y
c.430C>T
1 paper
NM_000519.4
p.K145E
c.433A>G
2 papers
NM_000519.4
p.A143V
c.428C>T
1 paper
NM_000519.4
p.L142_A143insFs
c.426_427dupGG
10 papers
NM_000519.4
p.A143D
c.428C>A
6 papers
NM_000519.4
p.L142P
c.425T>C
1 paper
NM_000519.4
p.Y146F
c.437A>T
1 paper
NM_000519.4
p.A141V
c.422C>T
1 paper
NM_000519.4
p.N140insFs
c.420dupT
1 paper
NM_000519.4
p.N140K
c.420T>G
3 papers
NM_000519.4
p.*148R
c.442T>C
1 paper
NM_000519.4
p.N140K
c.420T>A
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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."