Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.S420_R421Splc

MTM1

386 papers

RefSeq Summary

This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as ...

Pfam Domains

GRAMaa 28–143UCSCGRAM domain
Myotub-relatedaa 148–487UCSCMyotubularin-like phosphatase domain

Gene Aliases

HGNC Name

myotubularin 1

HGNC Previous Name

myotubular myopathy 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
31 papers
NM_000252.3
p.S420_R421Splc
c.1261-10A>G
Surrounding Variants
2 papers
NM_000252.3
p.S420_R421Splc
c.1261-5T>G
2 papers
NM_000252.3
p.S420_R421Splc
c.1261-1G>A
1 paper
NM_000252.3
p.S420_R421Splc
c.1261-19T>G
13 papers
NM_000252.3
p.R421*
c.1261C>T
1 paper
NM_000252.3
p.R421fs
c.1261_1262fs
42 papers
NM_000252.3
p.R421Q
c.1262G>A
1 paper
NM_000252.3
p.I422insFs
c.1264dupA
2 papers
NM_000252.3
p.R421L
c.1262G>T
2 papers
NM_000252.3
p.K427delFs
c.1279delA
1 paper
NM_000252.3
p.T430insFs
c.1288_1289insTA
8 papers
NM_000252.3
p.D431N
c.1291G>A
1 paper
NM_000252.3
p.D433_C444del12
c.1297_1331del36
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