Varaico: Literature-Extracted Genetic Variants

Gene:MYOT
Variant:p.R405K

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
Selected Variant
13 papers
NM_006790.3
p.R405K
c.1214G>A
Surrounding Variants
1 paper
NM_006790.3
p.D401G
c.1202A>G
1 paper
NM_006790.3
p.D401N
c.1201G>A
1 paper
NM_006790.3
p.V423M
c.1267G>A
1 paper
NM_006790.3
p.A442Splc
c.1325-4T>A
1 paper
NM_006790.3
p.A442V
c.1325C>T
1 paper
NM_006790.3
p.R443H
c.1328G>A
1 paper
NM_006790.3
p.P449delFs
c.1345delC
1 paper
NM_006790.3
p.P449Q
c.1346C>A
1 paper
NM_006790.3
p.Q453*
c.1357C>T
1 paper
NM_006790.3
p.R455_V456insC
c.1363_1367ins3
1 paper
NM_006790.3
p.R455W
c.1363C>T
1 paper
NM_006790.3
p.N467K
c.1401T>A
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