Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM1
Variant:p.R714C

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
12 papers
NM_014798.3
p.R714C
c.2140C>T
Surrounding Variants
1 paper
NM_014798.3
p.I715V
c.2143A>G
1 paper
NM_014798.3
p.E719delFs
c.2156_2157delCT
1 paper
NM_014798.3
p.Y701C
c.2102A>G
1 paper
NM_014798.3
p.M694T
c.2081T>C
1 paper
NM_014798.3
p.L692W
c.2075T>G
1 paper
NM_014798.3
p.F672V
c.2014T>G
1 paper
NM_014798.3
p.E781Q
c.2341G>C
1 paper
NM_014798.3
p.V638A
c.1913T>C
1 paper
NM_014798.3
p.V638L
c.1912G>T
1 paper
NM_014798.3
p.V638L
c.1912G>C
1 paper
NM_014798.3
p.V636G
c.1907T>G
1 paper
NM_014798.3
p.V636A
c.1907T>C
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