Varaico: Literature-Extracted Genetic Variants

Gene:MTMR11
Variant:p.G5insFs

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
3 papers
NM_001145862.2
p.G5insFs
c.14_15insG
Surrounding Variants
1 paper
NM_001145862.2
p.R6R
c.16C>A
1 paper
NM_001145862.2
p.R6fs
c.16_17fs
1 paper
NM_001145862.2
p.G7_Q8insG
c.19_23ins3
1 paper
NM_001145862.2
p.W3fs
c.7_8fs
1 paper
NM_001145862.2
p.Q8_S9insG
c.22_26ins3
1 paper
NM_001145862.2
p.W3insFs
c.7_8insG
1 paper
NM_001145862.2
p.M1I
c.3G>A
1 paper
NM_001145862.2
p.M1K
c.2T>A
1 paper
NM_001145862.2
p.M1V
c.1A>G
1 paper
NM_001145862.2
p.M1insFs
c.1_2ins8
1 paper
NM_001145862.2
p.I12Fs
c.35delinsTTFs
2 papers
NM_001145862.2
p.P14_Q15insG
c.40_44ins3
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