Varaico: Literature-Extracted Genetic Variants

Gene:MTMR3

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
1–12 of 71 variants
12 papers
NM_021090.4
p.C413S
c.1237T>A
12 papers
NM_021090.4
p.C413S
c.1238G>C
6 papers
NM_021090.4
p.N960S
c.2879A>G
3 papers
NM_021090.4
p.C1174S
c.3520T>A
3 papers
NM_021090.4
p.C1174S
c.3521G>C
2 papers
NM_021090.4
p.N70_V71Splc
c.210+1737C>G
2 papers
NM_021090.4
p.N70_V71Splc
c.211-2040G>A
2 papers
NM_021090.4
p.N70_V71Splc
c.211-700C>G
2 papers
NM_021090.4
p.R98Splc
c.293+634G>T
2 papers
NM_021090.4
p.R224Splc
c.671+1237G>A
2 papers
NM_021090.4
p.T1076I
c.3227C>T
1 paper
NM_021090.4
p.M1R
c.2T>G
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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."