Varaico: Literature-Extracted Genetic Variants

Gene:MTMR3
Variant:p.K545N

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.K545N
c.1635G>C
Surrounding Variants
1 paper
NM_021090.4
p.K545N
c.1635G>T
1 paper
NM_021090.4
p.V536M
c.1606G>A
1 paper
NM_021090.4
p.R532Q
c.1595G>A
1 paper
NM_021090.4
p.T508A
c.1522A>G
1 paper
NM_021090.4
p.A595T
c.1783G>A
1 paper
NM_021090.4
p.L605M
c.1813C>A
1 paper
NM_021090.4
p.R645W
c.1933C>T
1 paper
NM_021090.4
p.R645Q
c.1934G>A
1 paper
NM_021090.4
p.E649*
c.1945G>T
1 paper
NM_021090.4
p.D664A
c.1991A>C
1 paper
NM_021090.4
p.D481V
c.1442A>T
1 paper
NM_021090.4
p.T731I
c.2192C>T
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