Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM2
Variant:p.E692Splc

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.E692Splc
c.2075+8G>C
Surrounding Variants
1 paper
NM_015164.4
p.A689V
c.2066C>T
1 paper
NM_015164.4
p.L682V
c.2044C>G
1 paper
NM_015164.4
p.T669M
c.2006C>T
1 paper
NM_015164.4
p.G664C
c.1990G>T
1 paper
NM_015164.4
p.S662_V663Splc
c.1986+176G>T
1 paper
NM_015164.4
p.S662S
c.1986G>A
1 paper
NM_015164.4
p.V649L
c.1945G>C
1 paper
NM_015164.4
p.V649L
c.1945G>T
3 papers
NM_015164.4
p.K645fs
c.1933_1934fs
1 paper
NM_015164.4
p.E644*
c.1930G>T
1 paper
NM_015164.4
p.E644_K645delFs
c.1932_1933delGA
1 paper
NM_015164.4
p.A701S
c.2101G>T
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