Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM2
Variant:p.D238E

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.D238E
c.714T>A
Surrounding Variants
1 paper
NM_015164.4
p.D238Splc
c.713-1G>C
2 papers
NM_015164.4
p.R249H
c.746G>A
1 paper
NM_015164.4
p.T251P
c.751A>C
2 papers
NM_015164.4
p.T251I
c.752C>T
1 paper
NM_015164.4
p.A252T
c.754G>A
1 paper
NM_015164.4
p.E274K
c.820G>A
1 paper
NM_015164.4
p.A277A
c.831A>G
1 paper
NM_015164.4
p.E278G
c.833A>G
1 paper
NM_015164.4
p.S281F
c.842C>T
1 paper
NM_015164.4
p.K295del1
c.883_884delAAG
2 papers
NM_015164.4
p.E297D
c.891G>C
2 papers
NM_015164.4
p.E297D
c.891G>T
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