Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM1
Variant:p.R921S

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
3 papers
NM_014798.3
p.R921S
c.2763A>T
Surrounding Variants
3 papers
NM_014798.3
p.R921S
c.2763A>C
1 paper
NM_014798.3
p.R922L
c.2765G>T
1 paper
NM_014798.3
p.G919E
c.2756G>A
1 paper
NM_014798.3
p.A906V
c.2717C>T
1 paper
NM_014798.3
p.Q902L
c.2705A>T
1 paper
NM_014798.3
p.S944T
c.2831G>C
1 paper
NM_014798.3
p.R946Splc
c.2837+3G>A
1 paper
NM_014798.3
p.P868P
c.2604G>T
1 paper
NM_014798.3
p.D857Y
c.2569G>T
1 paper
NM_014798.3
p.R844P
c.2531G>C
1 paper
NM_014798.3
p.R950W
c.2848A>T
1 paper
NM_014798.3
p.P957S
c.2869C>T
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