Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM2
Variant:p.V797M

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.V797M
c.2389G>A
Surrounding Variants
1 paper
NM_015164.4
p.C795R
c.2383T>C
1 paper
NM_015164.4
p.H791N
c.2371C>A
1 paper
NM_015164.4
p.E769K
c.2305G>A
1 paper
NM_015164.4
p.P767fs
c.2299_2300fs
1 paper
NM_015164.4
p.T761M
c.2282C>T
1 paper
NM_015164.4
p.E756fs
c.2266_2267fs
1 paper
NM_015164.4
p.D755D
c.2265C>T
1 paper
NM_015164.4
p.E756delFs
c.2266delG
1 paper
NM_015164.4
p.W750*
c.2250G>A
1 paper
NM_015164.4
p.W750*
c.2249G>A
1 paper
NM_015164.4
p.R743H
c.2228G>A
1 paper
NM_015164.4
p.A739S
c.2215G>T
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