Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.Q147P

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
27 papers
NM_003289.4
p.Q147P
c.440A>C
Surrounding Variants
1 paper
NM_003289.4
p.E145_Q147del3
c.433_440del9
5 papers
NM_003289.4
p.L148P
c.443T>C
3 papers
NM_003289.4
p.E145K
c.433G>A
3 papers
NM_003289.4
p.E150A
c.449A>C
1 paper
NM_003289.4
p.Q144K
c.430C>A
3 papers
NM_003289.4
p.L143P
c.428T>C
31 papers
NM_003289.4
p.E139del1
c.415_416delCTC
8 papers
NM_003289.4
p.A155T
c.463G>A
6 papers
NM_003289.4
p.A155V
c.464C>T
3 papers
NM_003289.4
p.E139*
c.415G>T
1 paper
NM_003289.4
p.E139K
c.415G>A
1 paper
NM_003289.4
p.M135insFs
c.405dupG
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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."