Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.R244G

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
3 papers
NM_003289.4
p.R244G
c.730A>G
Surrounding Variants
1 paper
NM_003289.4
p.E240delFs
c.719_720delCT
1 paper
NM_003289.4
p.E240fs
c.718_719fs
1 paper
NM_003289.4
p.E240K
c.718G>A
1 paper
NM_003289.4
p.I253T
c.758T>C
1 paper
NM_003289.4
p.I225M
c.675C>G
1 paper
NM_003289.4
p.I225T
c.674T>C
1 paper
NM_003289.4
p.E224G
c.671A>G
1 paper
NM_003289.4
p.E224Q
c.670G>C
2 papers
NM_003289.4
p.E218del1
c.652_653delTTC
1 paper
NM_003289.4
p.L207_A211ins1
c.620_631dup12
8 papers
NM_003289.4
p.Q210*
c.628C>T
13 papers
NM_003289.4
p.N202K
c.606C>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."