Varaico: Literature-Extracted Genetic Variants

Gene:MTMR11
Variant:p.P469L

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.P469L
c.1406C>T
Surrounding Variants
1 paper
NM_001145862.2
p.P469A
c.1405C>G
1 paper
NM_001145862.2
p.H463D
c.1387C>G
1 paper
NM_001145862.2
p.L462R
c.1385T>G
1 paper
NM_001145862.2
p.N477S
c.1430A>G
1 paper
NM_001145862.2
p.R482H
c.1445G>A
1 paper
NM_001145862.2
p.P432L
c.1295C>T
1 paper
NM_001145862.2
p.P432A
c.1294C>G
1 paper
NM_001145862.2
p.Y492H
c.1474T>C
1 paper
NM_001145862.2
p.Y492C
c.1475A>G
1 paper
NM_001145862.2
p.P504A
c.1510C>G
1 paper
NM_001145862.2
p.N510insFs
c.1528_1529insT
1 paper
NM_001145862.2
p.L511fs
c.1531_1532fs
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