Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM1
Variant:p.M1V

PLEKHM1

97 papers

RefSeq Summary

The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive...

Pfam Domains

RUNaa 49–182UCSCRUN domain
RH_domaa 846–1048UCSCRubicon Homology Domain

Gene Aliases

HGNC Name

pleckstrin homology and RUN domain containing M1

HGNC Alias Symbol

KIAA0356

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014798.3
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_014798.3
p.M1R
c.2T>G
1 paper
NM_014798.3
p.M1T
c.2T>C
1 paper
NM_014798.3
p.P16P
c.48G>A
1 paper
NM_014798.3
p.V17D
c.50T>A
1 paper
NM_014798.3
p.V23A
c.68T>C
1 paper
NM_014798.3
p.L29W
c.86T>G
1 paper
NM_014798.3
p.V34_L36ins1
c.102_107dup6
1 paper
NM_014798.3
p.G45*
c.133G>T
1 paper
NM_014798.3
p.A47G
c.140C>G
1 paper
NM_014798.3
p.A56G
c.167C>G
1 paper
NM_014798.3
p.A64T
c.190G>A
1 paper
NM_014798.3
p.R68*
c.202C>T
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