Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM2

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
1–12 of 148 variants
9 papers
NM_015164.4
p.I32T
c.95T>C
4 papers
NM_015164.4
p.R1015Q
c.3044G>A
3 papers
NM_015164.4
p.G419R
c.1255G>A
3 papers
NM_015164.4
p.K645fs
c.1933_1934fs
2 papers
NM_015164.4
p.D134N
c.400G>A
2 papers
NM_015164.4
p.R249H
c.746G>A
2 papers
NM_015164.4
p.T251I
c.752C>T
2 papers
NM_015164.4
p.E297D
c.891G>C
2 papers
NM_015164.4
p.E297D
c.891G>T
2 papers
NM_015164.4
p.R362Q
c.1085G>A
2 papers
NM_015164.4
p.L369L
c.1107T>C
2 papers
NM_015164.4
p.G419R
c.1255G>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."