Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.V135E

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
1 paper
NM_000519.4
p.V135E
c.404T>A
Surrounding Variants
1 paper
NM_000519.4
p.V134A
c.401T>C
2 papers
NM_000519.4
p.V134M
c.400G>A
8 papers
NM_000519.4
p.G137D
c.410G>A
2 papers
NM_000519.4
p.K133T
c.398A>C
1 paper
NM_000519.4
p.K133E
c.397A>G
2 papers
NM_000519.4
p.Q132E
c.394C>G
2 papers
NM_000519.4
p.V138del1
c.412_414delCAC
1 paper
NM_000519.4
p.Y131delFs
c.391delA
1 paper
NM_000519.4
p.Y131fs
c.391_392fs
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.N140insFs
c.420dupT
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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."