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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTMR7

MTMR7

45 papers

RefSeq Summary

This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of t...

Pfam Domains

PH-GRAM_MTMR6-likeaa 8–101UCSCMTMR6-9, GRAM domain

Myotub-relatedaa 109–448UCSCMyotubularin-like phosphatase domain

Gene Aliases

HGNC Name

myotubularin related protein 7

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 51 variants

2 papers

chr8:17413276 G>A

NM_004686.5

p.T6M

c.17C>T

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=5, hom=0)16 overlapping SVs

2 papers

chr8:17349033 C>T

NM_004686.5

p.A173T

c.517G>A

Myotub-related

Exome: 0.0% (AC=2, hom=0)Genome: n/a14 overlapping SVs

2 papers

chr8:17349003 G>A

NM_004686.5

p.R183W

c.547C>T

Myotub-related

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=3, hom=0)14 overlapping SVs

2 papers

chr8:17302209 A>G

NM_004686.5

p.M522T

c.1565T>C

Exome: 0.3% (AC=4115, hom=12)Genome: 0.2% (AC=350, hom=1)15 overlapping SVs

1 paper

chr8:17373229 G>C

NM_004686.5

p.V12V

c.36C>G

PH-GRAM_MTMR6-like

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:17373216 G>A

NM_004686.5

p.R17*

c.49C>T

PH-GRAM_MTMR6-like

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)16 overlapping SVs

1 paper

chr8:17373198 CT>C

NM_004686.5

p.K22delFs

c.66delT

PH-GRAM_MTMR6-like

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:17373192 G>C

NM_004686.5

p.L25V

c.73C>G

PH-GRAM_MTMR6-like

Exome: 0.0% (AC=5, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr8:17373149 T>C

NM_004686.5

p.E39G

c.116A>G

PH-GRAM_MTMR6-like

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:17373135 G>C

NM_004686.5

p.P44A

c.130C>G

PH-GRAM_MTMR6-like

Exome: 99.9% (AC=1460314, hom=729538)Genome: 99.1% (AC=151007, hom=74865)16 overlapping SVs

1 paper

chr8:17371103 G>A

NM_004686.5

p.L82F

c.244C>T

PH-GRAM_MTMR6-like

exact variant not in gnomAD18 overlapping SVs

1 paper

chr8:17371095 T>A

NM_004686.5

p.I84I

c.252A>T

PH-GRAM_MTMR6-like

exact variant not in gnomAD18 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."