Varaico: Literature-Extracted Genetic Variants

Gene:MTMR11
Variant:p.P582S

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.P582S
c.1744C>T
Surrounding Variants
2 papers
NM_001145862.2
p.R594*
c.1780C>T
1 paper
NM_001145862.2
p.P595L
c.1784C>T
1 paper
NM_001145862.2
p.G567E
c.1700G>A
1 paper
NM_001145862.2
p.F564L
c.1692C>G
1 paper
NM_001145862.2
p.F564L
c.1692C>A
1 paper
NM_001145862.2
p.F564L
c.1690T>C
1 paper
NM_001145862.2
p.S560delFs
c.1679delG
1 paper
NM_001145862.2
p.Q605*
c.1813C>T
1 paper
NM_001145862.2
p.Q549_P550Splc
c.1648-1G>T
1 paper
NM_001145862.2
p.P620Q
c.1859C>A
1 paper
NM_001145862.2
p.P630L
c.1889C>T
1 paper
NM_001145862.2
p.P630R
c.1889C>G
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