Varaico: Literature-Extracted Genetic Variants

Gene:MTMR11
Variant:p.W516C

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.W516C
c.1548G>T
Surrounding Variants
1 paper
NM_001145862.2
p.W516C
c.1548G>C
1 paper
NM_001145862.2
p.R521L
c.1562G>T
2 papers
NM_001145862.2
p.R521H
c.1562G>A
1 paper
NM_001145862.2
p.L511fs
c.1531_1532fs
1 paper
NM_001145862.2
p.N510insFs
c.1528_1529insT
1 paper
NM_001145862.2
p.P504A
c.1510C>G
1 paper
NM_001145862.2
p.Y492C
c.1475A>G
1 paper
NM_001145862.2
p.Y492H
c.1474T>C
1 paper
NM_001145862.2
p.P548Q
c.1643C>A
1 paper
NM_001145862.2
p.Q549_P550Splc
c.1648-212C>T
1 paper
NM_001145862.2
p.R482H
c.1445G>A
1 paper
NM_001145862.2
p.N477S
c.1430A>G
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