Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.R474*

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
23 papers
NM_000252.3
p.R474*
c.1420C>T
Surrounding Variants
1 paper
NM_000252.3
p.R474fs
c.1420_1421fs
1 paper
NM_000252.3
p.G476R
c.1426G>C
3 papers
NM_000252.3
p.G476V
c.1427G>T
1 paper
NM_000252.3
p.Y471*
c.1413T>A
1 paper
NM_000252.3
p.Y471*
c.1413T>G
1 paper
NM_000252.3
p.F478_L479delFs
c.1433_1436del4
3 papers
NM_000252.3
p.L470P
c.1409T>C
1 paper
NM_000252.3
p.F478del1
c.1432_1434delTTC
1 paper
NM_000252.3
p.L470_Y471delFs
c.1410_1411delGT
1 paper
NM_000252.3
p.F478fs
c.1432_1433fs
3 papers
NM_000252.3
p.F478S
c.1433T>C
9 papers
NM_000252.3
p.H469P
c.1406A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."