Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHN1

PLEKHN1

68 papers

Gene Aliases

HGNC Name

pleckstrin homology domain containing N1

HGNC Alias Symbol

DKFZP434H2010

Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
7 papers
NM_032129.3
p.R487P
c.1460G>C
6 papers
NM_032129.3
p.S511P
c.1531T>C
3 papers
NM_032129.3
p.E319G
c.956A>G
3 papers
NM_032129.3
p.A531T
c.1591G>A
2 papers
NM_032129.3
p.S4R
c.12C>A
2 papers
NM_032129.3
p.A43V
c.128C>T
2 papers
NM_032129.3
p.K278E
c.832A>G
2 papers
NM_032129.3
p.S448L
c.1343C>T
2 papers
NM_032129.3
p.S512S
c.1536C>T
2 papers
NM_032129.3
p.G600R
c.1798G>A
2 papers
NM_032129.3
p.G600R
c.1798G>C
1 paper
NM_032129.3
p.N3T
c.8A>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."