Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.N132Y

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.N132Y
c.394A>T
Surrounding Variants
36 papers
NM_003289.4
p.R133W
c.397C>T
6 papers
NM_003289.4
p.R133P
c.398G>C
1 paper
NM_003289.4
p.V129A
c.386T>C
7 papers
NM_003289.4
p.K128E
c.382A>G
1 paper
NM_003289.4
p.M135insFs
c.405dupG
1 paper
NM_003289.4
p.M127delins
c.379delinsA
5 papers
NM_003289.4
p.G126R
c.376G>C
5 papers
NM_003289.4
p.G126R
c.376G>A
3 papers
NM_003289.4
p.E139*
c.415G>T
1 paper
NM_003289.4
p.E139K
c.415G>A
31 papers
NM_003289.4
p.E139del1
c.415_416delCTC
3 papers
NM_003289.4
p.L143P
c.428T>C
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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."