Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM2
Variant:p.T716T

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.T716T
c.2148G>A
Surrounding Variants
1 paper
NM_015164.4
p.T719_M720insFs
c.2156_2159dup4
1 paper
NM_015164.4
p.P709L
c.2126C>T
1 paper
NM_015164.4
p.A701S
c.2101G>T
1 paper
NM_015164.4
p.C735F
c.2204G>T
1 paper
NM_015164.4
p.A737A
c.2211A>G
1 paper
NM_015164.4
p.A739S
c.2215G>T
1 paper
NM_015164.4
p.E692Splc
c.2075+8G>C
1 paper
NM_015164.4
p.R743H
c.2228G>A
1 paper
NM_015164.4
p.A689V
c.2066C>T
1 paper
NM_015164.4
p.W750*
c.2249G>A
1 paper
NM_015164.4
p.W750*
c.2250G>A
1 paper
NM_015164.4
p.L682V
c.2044C>G
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