Varaico: Literature-Extracted Genetic Variants

Gene:MTMR11
Variant:p.E243K

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.E243K
c.727G>A
Surrounding Variants
1 paper
NM_001145862.2
p.R238Q
c.713G>A
1 paper
NM_001145862.2
p.R255L
c.764G>T
1 paper
NM_001145862.2
p.R255H
c.764G>A
1 paper
NM_001145862.2
p.P257L
c.770C>T
2 papers
NM_001145862.2
p.R258H
c.773G>A
1 paper
NM_001145862.2
p.L259F
c.777G>T
1 paper
NM_001145862.2
p.L259F
c.777G>C
1 paper
NM_001145862.2
p.G266C
c.796G>T
1 paper
NM_001145862.2
p.D268N
c.802G>A
2 papers
NM_001145862.2
p.R271C
c.811C>T
1 paper
NM_001145862.2
p.E284K
c.850G>A
1 paper
NM_001145862.2
p.D285Y
c.853G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."