Varaico: Literature-Extracted Genetic Variants

Gene:MTMR11
Variant:p.L325L

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.L325L
c.975C>T
Surrounding Variants
1 paper
NM_001145862.2
p.L325_C326delFs
c.975_978del4
1 paper
NM_001145862.2
p.D314_V315delFs
c.942_943delCA
1 paper
NM_001145862.2
p.V315I
c.943G>A
1 paper
NM_001145862.2
p.V301D
c.902T>A
1 paper
NM_001145862.2
p.E290K
c.868G>A
1 paper
NM_001145862.2
p.V289M
c.865G>A
1 paper
NM_001145862.2
p.D285Y
c.853G>T
1 paper
NM_001145862.2
p.D285N
c.853G>A
1 paper
NM_001145862.2
p.E284K
c.850G>A
2 papers
NM_001145862.2
p.R271C
c.811C>T
1 paper
NM_001145862.2
p.D268N
c.802G>A
1 paper
NM_001145862.2
p.G266C
c.796G>T
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