Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM2
Variant:p.L393V

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.L393V
c.1177C>G
Surrounding Variants
1 paper
NM_015164.4
p.T383T
c.1149G>A
1 paper
NM_015164.4
p.G407G
c.1221G>A
1 paper
NM_015164.4
p.Q373fs
c.1117_1118fs
1 paper
NM_015164.4
p.I414I
c.1242C>T
2 papers
NM_015164.4
p.L369L
c.1107T>C
3 papers
NM_015164.4
p.G419R
c.1255G>A
2 papers
NM_015164.4
p.G419R
c.1255G>C
1 paper
NM_015164.4
p.D422G
c.1265A>G
2 papers
NM_015164.4
p.R362Q
c.1085G>A
1 paper
NM_015164.4
p.R362G
c.1084C>G
1 paper
NM_015164.4
p.L360P
c.1079T>C
1 paper
NM_015164.4
p.G356S
c.1066G>A
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