Varaico: Literature-Extracted Genetic Variants

Gene:MYOT
Variant:p.S95I

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
12 papers
NM_006790.3
p.S95I
c.284G>T
Surrounding Variants
2 papers
NM_006790.3
p.P93S
c.277C>T
1 paper
NM_006790.3
p.S98N
c.293G>A
1 paper
NM_006790.3
p.Q91R
c.272A>G
1 paper
NM_006790.3
p.Q91K
c.271C>A
1 paper
NM_006790.3
p.S103L
c.308C>T
1 paper
NM_006790.3
p.Q104*
c.310C>T
1 paper
NM_006790.3
p.V85V
c.255T>G
1 paper
NM_006790.3
p.A115T
c.343G>A
8 papers
NM_006790.3
p.Q74K
c.220C>A
1 paper
NM_006790.3
p.M116I
c.348G>C
1 paper
NM_006790.3
p.P73insFs
c.217dupC
1 paper
NM_006790.3
p.S72fs
c.214_215fs
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