Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM1
Variant:p.V23A

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.V23A
c.68T>C
Surrounding Variants
1 paper
NM_014798.3
p.L29W
c.86T>G
1 paper
NM_014798.3
p.V17D
c.50T>A
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
1 paper
NM_014798.3
p.E70K
c.208G>A
1 paper
NM_014798.3
p.K99insFs
c.296_297insC
3 papers
NM_014798.3
p.K99Splc
c.296+1G>A
2 papers
NM_014798.3
p.H107Y
c.319C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."