Varaico: Literature-Extracted Genetic Variants

Gene:MTMR3
Variant:p.N929D

MTMR3

79 papers

RefSeq Summary

This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and ...

Pfam Domains

Myotub-relatedaa 127–525UCSCMyotubularin-like phosphatase domain
FYVEaa 1115–1180UCSCFYVE zinc finger

Gene Aliases

HGNC Name

myotubularin related protein 3

HGNC Alias Symbols

KIAA0371; ZFYVE10; FYVE-DSP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021090.4
p.N929D
c.2785A>G
Surrounding Variants
1 paper
NM_021090.4
p.N929S
c.2786A>G
1 paper
NM_021090.4
p.A931fs
c.2791_2792fs
1 paper
NM_021090.4
p.A931delFs
c.2792_2793delCC
1 paper
NM_021090.4
p.E935fs
c.2803_2804fs
1 paper
NM_021090.4
p.E935delFs
c.2804delA
6 papers
NM_021090.4
p.N960S
c.2879A>G
1 paper
NM_021090.4
p.R965G
c.2893A>G
1 paper
NM_021090.4
p.S883fs
c.2647_2648fs
1 paper
NM_021090.4
p.G859W
c.2575G>T
1 paper
NM_021090.4
p.S1006N
c.3017G>A
1 paper
NM_021090.4
p.D1008H
c.3022G>C
1 paper
NM_021090.4
p.S1021L
c.3062C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."