Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM1
Variant:p.C284C

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.C284C
c.852C>T
Surrounding Variants
1 paper
NM_014798.3
p.H283P
c.848A>C
1 paper
NM_014798.3
p.M288I
c.864G>A
1 paper
NM_014798.3
p.G295D
c.884G>A
1 paper
NM_014798.3
p.Q274*
c.820C>T
1 paper
NM_014798.3
p.T296_A297insC
c.886_890ins3
1 paper
NM_014798.3
p.A299V
c.896C>T
1 paper
NM_014798.3
p.A249V
c.746C>T
1 paper
NM_014798.3
p.N244I
c.731A>T
1 paper
NM_014798.3
p.E230K
c.688G>A
1 paper
NM_014798.3
p.L220L
c.658C>T
1 paper
NM_014798.3
p.R216Q
c.647G>A
1 paper
NM_014798.3
p.E203Q
c.607G>C
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