Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM3
Variant:p.F494V

PLEKHM3

107 papers

Pfam Domains

PHaa 362–456UCSCPH domain
RH_domaa 529–730UCSCRubicon Homology Domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing M3

HGNC Previous Symbol

PLEKHM1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080475.3
p.F494V
c.1480T>G
Surrounding Variants
1 paper
NM_001080475.3
p.S502T
c.1504T>A
1 paper
NM_001080475.3
p.A458V
c.1373C>T
1 paper
NM_001080475.3
p.A438T
c.1312G>A
1 paper
NM_001080475.3
p.R435insFs
c.1305dupC
1 paper
NM_001080475.3
p.D419H
c.1255G>C
1 paper
NM_001080475.3
p.D416G
c.1247A>G
1 paper
NM_001080475.3
p.L403_S404insT
c.1207_1211ins3
1 paper
NM_001080475.3
p.D400insFs
c.1198_1199insG
1 paper
NM_001080475.3
p.P394S
c.1180C>T
1 paper
NM_001080475.3
p.L389R
c.1166T>G
1 paper
NM_001080475.3
p.P349L
c.1046C>T
1 paper
NM_001080475.3
p.P349_S350insT
c.1045_1049ins3
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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."