Varaico: Literature-Extracted Genetic Variants

Gene:MYOT

MYOT

243 papers

RefSeq Summary

This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and preve...

Pfam Domains

I-setaa 250–340UCSCImmunoglobulin I-set domain
I-setaa 349–440UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

myotilin

HGNC Previous Symbols

TTID; LGMD1A; LGMD1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 130 variants
49 papers
NM_006790.3
p.S60F
c.179C>T
40 papers
NM_006790.3
p.S55F
c.164C>T
38 papers
NM_006790.3
p.T57I
c.170C>T
31 papers
NM_006790.3
p.S60C
c.179C>G
13 papers
NM_006790.3
p.R405K
c.1214G>A
12 papers
NM_006790.3
p.S95I
c.284G>T
10 papers
NM_006790.3
p.S39F
c.116C>T
8 papers
NM_006790.3
p.K36E
c.106A>G
8 papers
NM_006790.3
p.Q74K
c.220C>A
5 papers
NM_006790.3
p.R6G
c.16C>G
5 papers
NM_006790.3
p.L276M
c.826C>A
4 papers
NM_006790.3
p.R6H
c.17G>A
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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."