Varaico: Literature-Extracted Genetic Variants

Gene:MYOT
Variant:p.E311_V312delFs

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
1 paper
NM_006790.3
p.E311_V312delFs
c.931_935del5
Surrounding Variants
1 paper
NM_006790.3
p.G304S
c.910G>A
1 paper
NM_006790.3
p.E302del1
c.904_905delGAG
1 paper
NM_006790.3
p.M298I
c.894G>A
1 paper
NM_006790.3
p.M298I
c.894G>C
1 paper
NM_006790.3
p.M298I
c.894G>T
1 paper
NM_006790.3
p.A325V
c.974C>T
1 paper
NM_006790.3
p.N327N
c.981T>C
1 paper
NM_006790.3
p.R288_T289insFs
c.864_865insA
1 paper
NM_001135940.2
p.F150L
c.448T>C
1 paper
NM_001135940.2
p.F150L
c.450C>A
1 paper
NM_001135940.2
p.F150L
c.450C>G
1 paper
NM_006790.3
p.W283*
c.849G>A
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