Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM2
Variant:p.V934F

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
1 paper
NM_015164.4
p.V934F
c.2800G>T
Surrounding Variants
2 papers
NM_015164.4
p.D920N
c.2758G>A
1 paper
NM_015164.4
p.G919fs
c.2755_2756fs
2 papers
NM_015164.4
p.G919delFs
c.2756delG
1 paper
NM_015164.4
p.H902R
c.2705A>G
1 paper
NM_015164.4
p.I950insFs
c.2850dupC
1 paper
NM_015164.4
p.I887L
c.2659A>C
1 paper
NM_015164.4
p.I887L
c.2659A>T
1 paper
NM_015164.4
p.P885S
c.2653C>T
1 paper
NM_015164.4
p.K970fs
c.2908_2909fs
1 paper
NM_015164.4
p.G875E
c.2624G>A
1 paper
NM_015164.4
p.Q870*
c.2608C>T
1 paper
NM_015164.4
p.A859G
c.2576C>G
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