Varaico: Literature-Extracted Genetic Variants

Gene:MYOT
Variant:p.K36I

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.K36I
c.107A>T
Surrounding Variants
8 papers
NM_006790.3
p.K36E
c.106A>G
10 papers
NM_006790.3
p.S39F
c.116C>T
1 paper
NM_006790.3
p.S33I
c.98G>T
1 paper
NM_006790.3
p.E27D
c.81A>C
1 paper
NM_006790.3
p.E27D
c.81A>T
1 paper
NM_006790.3
p.E49K
c.145G>A
1 paper
NM_006790.3
p.R20delFs
c.60delA
2 papers
NM_006790.3
p.S19_P23del5
c.55_68del15
40 papers
NM_006790.3
p.S55F
c.164C>T
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
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