Varaico: Literature-Extracted Genetic Variants

Gene:MYOT
Variant:p.T57I

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
38 papers
NM_006790.3
p.T57I
c.170C>T
Surrounding Variants
1 paper
NM_006790.3
p.T57fs
c.169_170fs
1 paper
NM_006790.3
p.T57A
c.169A>G
1 paper
NM_006790.3
p.T57delFs
c.170delC
1 paper
NM_006790.3
p.L58L
c.172C>T
40 papers
NM_006790.3
p.S55F
c.164C>T
31 papers
NM_006790.3
p.S60C
c.179C>G
49 papers
NM_006790.3
p.S60F
c.179C>T
1 paper
NM_006790.3
p.E49K
c.145G>A
1 paper
NM_006790.3
p.S67C
c.200C>G
1 paper
NM_006790.3
p.A68insFs
c.203dupC
1 paper
NM_006790.3
p.F69Fs
c.205_206delinsAACTFs
1 paper
NM_006790.3
p.S72fs
c.214_215fs
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