Varaico: Literature-Extracted Genetic Variants

Gene:MTMR14
Variant:p.I428V

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.I428V
c.1282A>G
Surrounding Variants
1 paper
NM_001077525.3
p.R419Q
c.1256G>A
1 paper
NM_001077525.3
p.R419W
c.1255C>T
1 paper
NM_001077525.3
p.P417L
c.1250C>T
1 paper
NM_001077525.3
p.R433*
c.1297C>T
1 paper
NM_001077525.3
p.S438G
c.1312A>G
6 papers
NM_001077525.3
p.Y462C
c.1385A>G
1 paper
NM_001077525.3
p.E403*
c.1207G>T
1 paper
NM_001077525.3
p.S488N
c.1463G>A
1 paper
NM_001077525.3
p.S497delFs
c.1490delC
1 paper
NM_001077525.3
p.S515F
c.1544C>T
1 paper
NM_001077525.3
p.H520Y
c.1558C>T
1 paper
NM_001077525.3
p.N523D
c.1567A>G
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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."