Varaico: Literature-Extracted Genetic Variants

Gene:NEURL4
Variant:p.R754Q

NEURL4

74 papers

RefSeq Summary

The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008].

Pfam Domains

Neuralizedaa 44–206UCSCNeuralized
Neuralizedaa 320–483UCSCNeuralized
Neuralizedaa 523–685UCSCNeuralized
Neuralizedaa 719–883UCSCNeuralized
Neuralizedaa 916–1085UCSCNeuralized
Neuralizedaa 1134–1293UCSCNeuralized

Gene Aliases

HGNC Name

neuralized E3 ubiquitin protein ligase 4

HGNC Alias Symbol

KIAA1787

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032442.3
p.R754Q
c.2261G>A
Surrounding Variants
1 paper
NM_032442.3
p.R754Q
c.2261G>A
1 paper
NM_032442.3
p.G732E
c.2195G>A
1 paper
NM_032442.3
p.G732R
c.2194G>C
1 paper
NM_032442.3
p.G732R
c.2194G>A
2 papers
NM_032442.3
p.G724S
c.2170G>A
1 paper
NM_032442.3
p.I683T
c.2048T>C
1 paper
NM_032442.3
p.V668I
c.2002G>A
1 paper
NM_032442.3
p.P666L
c.1997C>T
1 paper
NM_032442.3
p.A827A
c.2481G>A
1 paper
NM_032442.3
p.R833H
c.2498G>A
1 paper
NM_032442.3
p.D623N
c.1867G>A
1 paper
NM_032442.3
p.G552S
c.1654G>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."