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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTMR3

Variant:p.N70_V71Splc

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr22:29986440 G>A

NM_021090.4

p.N70_V71Splc

c.211-2040G>A

Exome: 0.2% (AC=728, hom=47)Genome: 3.3% (AC=4946, hom=283)4 overlapping SVs

Surrounding Variants

2 papers

chr22:29987780 C>G

NM_021090.4

p.N70_V71Splc

c.211-700C>G

Exome: 2.8% (AC=1, hom=0)Genome: 3.2% (AC=4949, hom=281)3 overlapping SVs

2 papers

chr22:29989196 G>T

NM_021090.4

p.R98Splc

c.293+634G>T

Exome: 0.9% (AC=2, hom=0)Genome: 3.2% (AC=4941, hom=282)4 overlapping SVs

2 papers

chr22:29980789 C>G

NM_021090.4

p.N70_V71Splc

c.210+1737C>G

Exome: 0.0% (AC=0, hom=0)Genome: 3.3% (AC=4949, hom=281)4 overlapping SVs

1 paper

chr22:29978469 T>C

NM_021090.4

p.C11R

c.31T>C

exact variant not in gnomAD3 overlapping SVs

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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."