Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM2
Variant:p.R36Q

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.R36Q
c.107G>A
Surrounding Variants
9 papers
NM_015164.4
p.I32T
c.95T>C
1 paper
NM_015164.4
p.D30fs
c.88_89fs
1 paper
NM_015164.4
p.Y24C
c.71A>G
1 paper
NM_015164.4
p.H51Y
c.151C>T
1 paper
NM_015164.4
p.L54P
c.161T>C
1 paper
NM_015164.4
p.G56R
c.166G>A
1 paper
NM_015164.4
p.G56R
c.166G>C
1 paper
NM_015164.4
p.T72S
c.214A>T
1 paper
NM_015164.4
p.T72S
c.215C>G
1 paper
NM_015164.4
p.I77delFs
c.230delT
1 paper
NM_015164.4
p.L97L
c.291G>A
1 paper
NM_015164.4
p.S105F
c.314C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."