Varaico: Literature-Extracted Genetic Variants

Gene:MTMR3
Variant:p.D316A

MTMR3

79 papers

RefSeq Summary

This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and ...

Pfam Domains

Myotub-relatedaa 127–525UCSCMyotubularin-like phosphatase domain
FYVEaa 1115–1180UCSCFYVE zinc finger

Gene Aliases

HGNC Name

myotubularin related protein 3

HGNC Alias Symbols

KIAA0371; ZFYVE10; FYVE-DSP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021090.4
p.D316A
c.947A>C
Surrounding Variants
1 paper
NM_021090.4
p.N298H
c.892A>C
1 paper
NM_021090.4
p.G284fs
c.850_851fs
2 papers
NM_021090.4
p.R224Splc
c.671+1237G>A
1 paper
NM_021090.4
p.S377*
c.1130C>A
1 paper
NM_021090.4
p.S377*
c.1130C>G
1 paper
NM_021090.4
p.T382T
c.1146A>T
1 paper
NM_021090.4
p.S389S
c.1167T>C
1 paper
NM_021090.4
p.L391P
c.1172T>C
12 papers
NM_021090.4
p.C413S
c.1237T>A
12 papers
NM_021090.4
p.C413S
c.1238G>C
1 paper
NM_021090.4
p.V221L
c.661G>C
1 paper
NM_021090.4
p.S208T
c.623G>C
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