Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM2
Variant:p.P514T

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.P514T
c.1540C>A
Surrounding Variants
1 paper
NM_015164.4
p.E536K
c.1606G>A
1 paper
NM_015164.4
p.P538L
c.1613C>T
1 paper
NM_015164.4
p.V539M
c.1615G>A
1 paper
NM_015164.4
p.E543D
c.1629G>C
1 paper
NM_015164.4
p.E543D
c.1629G>T
1 paper
NM_015164.4
p.G545R
c.1633G>A
1 paper
NM_015164.4
p.S473delins
c.1418_1419delinsAT
1 paper
NM_015164.4
p.F464L
c.1392C>A
1 paper
NM_015164.4
p.F464L
c.1392C>G
1 paper
NM_015164.4
p.F464L
c.1390T>C
1 paper
NM_015164.4
p.M462V
c.1384A>G
1 paper
NM_015164.4
p.L451F
c.1351C>T
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