Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM1
Variant:p.R1046W

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.R1046W
c.3136C>T
Surrounding Variants
1 paper
NM_014798.3
p.R1047H
c.3140G>A
1 paper
NM_014798.3
p.N1053K
c.3159C>G
1 paper
NM_014798.3
p.N1053K
c.3159C>A
1 paper
NM_014798.3
p.A1056T
c.3166G>A
4 papers
NM_014798.3
p.T1017_T1018delFs
c.3051_3052delTG
1 paper
NM_014798.3
p.D1016D
c.3048C>T
1 paper
NM_014798.3
p.D1016H
c.3046G>C
1 paper
NM_014798.3
p.F1013S
c.3038T>C
1 paper
NM_014798.3
p.D1008G
c.3023A>G
1 paper
NM_014798.3
p.R997C
c.2989C>T
1 paper
NM_014798.3
p.F976L
c.2926T>C
1 paper
NM_014798.3
p.Q967_I968Splc
c.2902-9C>T
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