Varaico: Literature-Extracted Genetic Variants

Gene:NET1
Variant:p.P59S

NET1

73 papers

RefSeq Summary

This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene int...

Pfam Domains

RhoGEFaa 178–354UCSCRhoGEF domain
PHaa 384–501UCSCPH domain

Gene Aliases

HGNC Name

neuroepithelial cell transforming 1

HGNC Alias Symbols

ARHGEF8; NET1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001047160.3
p.P59S
c.175C>T
Surrounding Variants
1 paper
NM_001047160.3
p.G58G
c.174C>T
1 paper
NM_001047160.3
p.D62V
c.185A>T
1 paper
NM_001047160.3
p.G49S
c.145G>A
1 paper
NM_001047160.3
p.G49C
c.145G>T
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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."