Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.A143D

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
10 papers
NM_000519.4
p.A143D
c.428C>A
Surrounding Variants
2 papers
NM_000519.4
p.A143V
c.428C>T
1 paper
NM_000519.4
p.L142_A143insFs
c.426_427dupGG
3 papers
NM_000519.4
p.H144Y
c.430C>T
6 papers
NM_000519.4
p.L142P
c.425T>C
2 papers
NM_000519.4
p.H144R
c.431A>G
1 paper
NM_000519.4
p.K145E
c.433A>G
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
1 paper
NM_000519.4
p.N140K
c.420T>A
1 paper
NM_000519.4
p.Y146F
c.437A>T
2 papers
NM_000519.4
p.V138del1
c.412_414delCAC
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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."