Varaico: Literature-Extracted Genetic Variants

Gene:MYOT
Variant:p.E497D

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.E497D
c.1491A>T
Surrounding Variants
1 paper
NM_006790.3
p.E497D
c.1491A>C
1 paper
NM_006790.3
p.S495N
c.1484G>A
1 paper
NM_006790.3
p.G491fs
c.1471_1472fs
1 paper
NM_006790.3
p.S490_E494delFs
c.1470_1480del11
1 paper
NM_006790.3
p.Q489*
c.1465C>T
1 paper
NM_006790.3
p.A487T
c.1459G>A
1 paper
NM_006790.3
p.Q484K
c.1450C>A
1 paper
NM_006790.3
p.Q475*
c.1423C>T
1 paper
NM_006790.3
p.V473A
c.1418T>C
1 paper
NM_006790.3
p.N467K
c.1401T>A
1 paper
NM_006790.3
p.N467K
c.1401T>G
1 paper
NM_006790.3
p.R455_V456insC
c.1363_1367ins3
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