Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM1
Variant:p.F672V

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.F672V
c.2014T>G
Surrounding Variants
1 paper
NM_014798.3
p.L692W
c.2075T>G
1 paper
NM_014798.3
p.M694T
c.2081T>C
1 paper
NM_014798.3
p.Y701C
c.2102A>G
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
12 papers
NM_014798.3
p.R714C
c.2140C>T
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.R593H
c.1778G>A
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