Varaico: Literature-Extracted Genetic Variants

Gene:MTMR14
Variant:p.C330S

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
1 paper
NM_001077525.3
p.C330S
c.988T>A
Surrounding Variants
1 paper
NM_001077525.3
p.C330S
c.989G>C
4 papers
NM_001077525.3
p.R336Q
c.1007G>A
1 paper
NM_001077525.3
p.R345C
c.1033C>T
1 paper
NM_001077525.3
p.L348L
c.1042T>C
1 paper
NM_001077525.3
p.D351N
c.1051G>A
2 papers
NM_001077525.3
p.V368M
c.1102G>A
1 paper
NM_001077525.3
p.M378R
c.1133T>G
1 paper
NM_001077525.3
p.R382W
c.1144C>T
1 paper
NM_001077525.3
p.D321N
c.961G>A
1 paper
NM_001077525.3
p.V318D
c.953T>A
1 paper
NM_001077525.3
p.E403*
c.1207G>T
1 paper
NM_001077525.3
p.P417L
c.1250C>T
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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."