Varaico: Literature-Extracted Genetic Variants

Gene:MTMR14
Variant:p.D173E

MTMR14

61 papers

RefSeq Summary

This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol...

Gene Aliases

HGNC Name

myotubularin related protein 14

HGNC Previous Symbol

C3orf29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001077525.3
p.D173E
c.519T>G
Surrounding Variants
3 papers
NM_001077525.3
p.D173E
c.519T>A
1 paper
NM_001077525.3
p.S164S
c.492A>C
1 paper
NM_001077525.3
p.S164fs
c.490_491fs
1 paper
NM_001077525.3
p.F163insFs
c.489dupC
1 paper
NM_001077525.3
p.Y198*
c.594T>A
1 paper
NM_001077525.3
p.Y198*
c.594T>G
1 paper
NM_001077525.3
p.N218I
c.653A>T
2 papers
NM_001077525.3
p.D241N
c.721G>A
1 paper
NM_001077525.3
p.G251Splc
c.752-1685C>T
1 paper
NM_001077525.3
p.P132A
c.394C>G
1 paper
NM_001077525.3
p.F254L
c.760T>C
1 paper
NM_001077525.3
p.F254L
c.762T>A
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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."