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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTMR7

Variant:p.V239I

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

Selected Variant

1 paper

chr8:17341380 C>T

NM_004686.5

p.V239I

c.715G>A

Myotub-related

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=11, hom=0)14 overlapping SVs

Surrounding Variants

1 paper

chr8:17348990 C>T

NM_004686.5

p.R187Q

c.560G>A

Myotub-related

Exome: 0.0% (AC=5, 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

1 paper

chr8:17349026 A>G

NM_004686.5

p.I175T

c.524T>C

Myotub-related

Exome: 0.0% (AC=369, hom=6)Genome: 0.0% (AC=22, hom=1)14 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

1 paper

chr8:17349051 C>T

NM_004686.5

p.V167I

c.499G>A

Myotub-related

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=6, hom=0)14 overlapping SVs

1 paper

chr8:17349071 G>A

NM_004686.5

p.S160F

c.479C>T

Myotub-related

exact variant not in gnomAD14 overlapping SVs

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