Varaico: Literature-Extracted Genetic Variants

Gene:MTMR3
Variant:p.R797Q

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.R797Q
c.2390G>A
Surrounding Variants
1 paper
NM_021090.4
p.P783delFs
c.2349delC
1 paper
NM_021090.4
p.L828P
c.2483T>C
1 paper
NM_021090.4
p.H753Y
c.2257C>T
1 paper
NM_021090.4
p.A748V
c.2243C>T
1 paper
NM_021090.4
p.G859W
c.2575G>T
1 paper
NM_021090.4
p.P732S
c.2194C>T
1 paper
NM_021090.4
p.T731I
c.2192C>T
1 paper
NM_021090.4
p.S883fs
c.2647_2648fs
1 paper
NM_021090.4
p.N929D
c.2785A>G
1 paper
NM_021090.4
p.N929S
c.2786A>G
1 paper
NM_021090.4
p.D664A
c.1991A>C
1 paper
NM_021090.4
p.A931fs
c.2791_2792fs
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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."