Varaico: Literature-Extracted Genetic Variants

Gene:MTMR11
Variant:p.Q116H

MTMR11

98 papers

Pfam Domains

Myotub-relatedaa 189–318UCSCMyotubularin-like phosphatase domain
Myotub-relatedaa 307–483UCSCMyotubularin-like phosphatase domain
Myotub-relatedaa 307–483UCSCMyotubularin-like phosphatase domain
3-PAPaa 547–678UCSCMyotubularin-associated protein

Gene Aliases

HGNC Name

myotubularin related protein 11

HGNC Alias Symbol

CRA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145862.2
p.Q116H
c.348G>C
Surrounding Variants
1 paper
NM_001145862.2
p.Q116H
c.348G>T
1 paper
NM_001145862.2
p.R114Q
c.341G>A
1 paper
NM_001145862.2
p.K125E
c.373A>G
1 paper
NM_001145862.2
p.P128A
c.382C>G
1 paper
NM_001145862.2
p.H134Y
c.400C>T
1 paper
NM_001145862.2
p.H134L
c.401A>T
1 paper
NM_001145862.2
p.R139W
c.415C>T
1 paper
NM_001145862.2
p.L140L
c.420G>A
1 paper
NM_001145862.2
p.G149S
c.445G>A
1 paper
NM_001145862.2
p.I103T
c.308T>C
1 paper
NM_001145862.2
p.A99G
c.296C>G
1 paper
NM_001145862.2
p.E95delFs
c.284delT
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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."