Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.L11L

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.L11L
c.33G>A
Surrounding Variants
1 paper
NM_003289.4
p.Q9_L11delFs
c.27_31del5
1 paper
NM_003289.4
p.K12K
c.36G>A
1 paper
NM_003289.4
p.L13Q
c.38T>A
1 paper
NM_003289.4
p.Q9Q
c.27G>A
1 paper
NM_003289.4
p.Q9*
c.25C>T
4 papers
NM_003289.4
p.D14V
c.41A>T
3 papers
NM_003289.4
p.M8R
c.23T>G
24 papers
NM_003289.4
p.K7del1
c.19_20delCTT
3 papers
NM_003289.4
p.K15N
c.45G>T
3 papers
NM_003289.4
p.K15N
c.45G>C
2 papers
NM_003289.4
p.K7*
c.19A>T
1 paper
NM_003289.4
p.A18A
c.54C>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."