Varaico: Literature-Extracted Genetic Variants

Gene:NEURL4
Variant:p.T228fs

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.T228fs
c.682_683fs
Surrounding Variants
1 paper
NM_032442.3
p.T228delFs
c.682delT
1 paper
NM_032442.3
p.D241E
c.723T>G
1 paper
NM_032442.3
p.T215P
c.643A>C
6 papers
NM_032442.3
p.P214H
c.641C>A
1 paper
NM_032442.3
p.P207H
c.620C>A
1 paper
NM_032442.3
p.K198fs
c.592_593fs
1 paper
NM_032442.3
p.W190*
c.570G>A
1 paper
NM_032442.3
p.W190*
c.569G>A
1 paper
NM_032442.3
p.R176Q
c.527G>A
1 paper
NM_032442.3
p.V173G
c.518T>G
1 paper
NM_032442.3
p.M245I
c.735G>T
1 paper
NM_032442.3
p.M245I
c.735G>C
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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."