Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM1
Variant:p.R119W

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.R119W
c.355C>T
Surrounding Variants
1 paper
NM_014798.3
p.T113M
c.338C>T
1 paper
NM_014798.3
p.A125insFs
c.375dupC
1 paper
NM_014798.3
p.I101_H107ins2
c.303_320dup18
1 paper
NM_014798.3
p.L130Q
c.389T>A
2 papers
NM_014798.3
p.H107Y
c.319C>T
1 paper
NM_014798.3
p.E132A
c.395A>C
1 paper
NM_014798.3
p.E203Q
c.607G>C
1 paper
NM_014798.3
p.R216Q
c.647G>A
1 paper
NM_014798.3
p.L220L
c.658C>T
1 paper
NM_014798.3
p.E230K
c.688G>A
1 paper
NM_014798.3
p.N244I
c.731A>T
1 paper
NM_014798.3
p.A249V
c.746C>T
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