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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTMR3

Variant:p.V157I

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

1 paper

chr22:29998769 G>A

NM_021090.4

p.V157I

c.469G>A

Myotub-related

exact variant not in gnomAD4 overlapping SVs

Surrounding Variants

1 paper

chr22:30002945 G>C

NM_021090.4

p.S208T

c.623G>C

Myotub-related

exact variant not in gnomAD4 overlapping SVs

1 paper

chr22:30002983 G>C

NM_021090.4

p.V221L

c.661G>C

Myotub-related

exact variant not in gnomAD4 overlapping SVs

2 papers

chr22:30004230 G>A

NM_021090.4

p.R224Splc

c.671+1237G>A

Exome: 0.0% (AC=0, hom=0)Genome: 3.2% (AC=4936, hom=277)3 overlapping SVs

1 paper

chr22:30007292 G>GN

NM_021090.4

p.G284fs

c.850_851fs

Myotub-related

exact variant not in gnomAD3 overlapping SVs

1 paper

chr22:30007915 A>C

NM_021090.4

p.N298H

c.892A>C

Myotub-related

Exome: 0.0% (AC=1, hom=0)Genome: n/a3 overlapping SVs

1 paper

chr22:30007970 A>C

NM_021090.4

p.D316A

c.947A>C

Myotub-related

exact variant not in gnomAD3 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

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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."