Varaico: Literature-Extracted Genetic Variants

Gene:MYOT
Variant:p.M1I

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
2 papers
NM_006790.3
p.M1I
c.3G>A
Surrounding Variants
1 paper
NM_006790.3
p.Y4_F10del0
c.11_28del18
1 paper
NM_006790.3
p.M1_N3del0
c.1_9del9
1 paper
NM_006790.3
p.M1_H9del9
c.1_26del27
1 paper
NM_006790.3
p.Y4F
c.11A>T
1 paper
NM_006790.3
p.E5K
c.13G>A
5 papers
NM_006790.3
p.R6G
c.16C>G
4 papers
NM_006790.3
p.R6H
c.17G>A
2 papers
NM_006790.3
p.P7_K8delFs
c.19_23del5
1 paper
NM_006790.3
p.K8Q
c.22A>C
1 paper
NM_006790.3
p.H9_I11insFs
c.26_33dup8
1 paper
NM_006790.3
p.H9ins5
c.25_26ins15
1 paper
NM_006790.3
p.S13Y
c.38C>A
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