Varaico: Literature-Extracted Genetic Variants

Gene:MTMR11
Variant:p.A226_S228delFs

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.A226_S228delFs
c.676_683del8
Surrounding Variants
1 paper
NM_001145862.2
p.A226fs
c.676_677fs
1 paper
NM_001145862.2
p.A226V
c.677C>T
1 paper
NM_001145862.2
p.D224N
c.670G>A
1 paper
NM_001145862.2
p.E221K
c.661G>A
2 papers
NM_001145862.2
p.R206W
c.616C>T
2 papers
NM_001145862.2
p.E200D
c.600A>T
2 papers
NM_001145862.2
p.E200D
c.600A>C
1 paper
NM_001145862.2
p.P194R
c.581C>G
1 paper
NM_001145862.2
p.P194S
c.580C>T
1 paper
NM_001145862.2
p.S180G
c.538A>G
1 paper
NM_001145862.2
p.R238Q
c.713G>A
1 paper
NM_001145862.2
p.E243K
c.727G>A
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