Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM2
Variant:p.D134N

PLEKHM2

108 papers

RefSeq Summary

This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the micro...

Pfam Domains

RUNaa 44–157UCSCRUN domain
PH_PLEKHM2aa 579–718UCSCPLEKHM2 PH domain-like
PHaa 772–873UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin homology and RUN domain containing M2

HGNC Alias Symbol

KIAA0842

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015164.4
p.D134N
c.400G>A
Surrounding Variants
1 paper
NM_015164.4
p.T137M
c.410C>T
1 paper
NM_015164.4
p.L119L
c.357G>C
1 paper
NM_015164.4
p.G118D
c.353G>A
1 paper
NM_015164.4
p.L117M
c.349C>A
1 paper
NM_015164.4
p.E115K
c.343G>A
1 paper
NM_015164.4
p.S105F
c.314C>T
1 paper
NM_015164.4
p.L97L
c.291G>A
1 paper
NM_015164.4
p.D161N
c.481G>A
1 paper
NM_015164.4
p.R181C
c.541C>T
1 paper
NM_015164.4
p.H187H
c.561C>T
1 paper
NM_015164.4
p.F197_S199del0
c.589_597del9
1 paper
NM_015164.4
p.I77delFs
c.230delT
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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."