Varaico: Literature-Extracted Genetic Variants

Gene:MTMR14
Variant:p.A2delFs

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.A2delFs
c.6delC
Surrounding Variants
1 paper
NM_001077525.3
p.A2P
c.4G>C
1 paper
NM_001077525.3
p.M1R
c.2T>G
1 paper
NM_001077525.3
p.A6del1
c.16_17delGCC
1 paper
NM_001077525.3
p.A8T
c.22G>A
1 paper
NM_001077525.3
p.S16_S18del3
c.46_53del9
1 paper
NM_001077525.3
p.R56C
c.166C>T
1 paper
NM_001077525.3
p.R60K
c.179G>A
2 papers
NM_001077525.3
p.E100*
c.298G>T
1 paper
NM_001077525.3
p.T103Splc
c.308+1G>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."