Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM2
Variant:p.R1015Q

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
4 papers
NM_015164.4
p.R1015Q
c.3044G>A
Surrounding Variants
1 paper
NM_015164.4
p.R1015R
c.3043C>A
1 paper
NM_015164.4
p.R1010H
c.3029G>A
1 paper
NM_015164.4
p.R1004Q
c.3011G>A
1 paper
NM_015164.4
p.R1004W
c.3010C>T
1 paper
NM_015164.4
p.L997I
c.2989C>A
1 paper
NM_015164.4
p.F991L
c.2973C>A
1 paper
NM_015164.4
p.F991L
c.2973C>G
1 paper
NM_015164.4
p.F991L
c.2971T>C
1 paper
NM_015164.4
p.N987K
c.2961C>A
1 paper
NM_015164.4
p.H979delFs
c.2935delC
1 paper
NM_015164.4
p.Q974_V975Splc
c.2923-2A>G
1 paper
NM_015164.4
p.K970fs
c.2908_2909fs
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