Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.T201I

TPM2

306 papers

RefSeq Summary

This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other ...

Pfam Domains

Tropomyosinaa 62–284UCSCTropomyosin

Gene Aliases

HGNC Name

tropomyosin 2

HGNC Previous Symbol

AMCD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003289.4
p.T201I
c.602C>T
Surrounding Variants
13 papers
NM_003289.4
p.N202K
c.606C>G
13 papers
NM_003289.4
p.N202K
c.606C>A
1 paper
NM_003289.4
p.E194A
c.581A>C
8 papers
NM_003289.4
p.Q210*
c.628C>T
1 paper
NM_003289.4
p.L207_A211ins1
c.620_631dup12
1 paper
NM_003289.4
p.C190S
c.569G>C
1 paper
NM_003289.4
p.C190S
c.568T>A
1 paper
NM_003289.4
p.S188Splc
c.564-1G>A
1 paper
NM_003289.4
p.S188Splc
c.564-2A>C
2 papers
NM_003289.4
p.E218del1
c.652_653delTTC
1 paper
NM_003289.4
p.E224Q
c.670G>C
1 paper
NM_003289.4
p.E224G
c.671A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."