Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.A119V

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.A119V
c.356C>T
Surrounding Variants
26 papers
NM_003289.4
p.E117K
c.349G>A
8 papers
NM_003289.4
p.E122K
c.364G>A
2 papers
NM_003289.4
p.E115V
c.344A>T
1 paper
NM_003289.4
p.L113P
c.338T>C
1 paper
NM_003289.4
p.R125Splc
c.374+2T>C
1 paper
NM_003289.4
p.R125Splc
c.374+9G>C
1 paper
NM_003289.4
p.T108I
c.323C>T
2 papers
NM_003289.4
p.R105P
c.314G>C
1 paper
NM_003289.4
p.E104V
c.311A>T
1 paper
NM_003289.4
p.Q103R
c.308A>G
1 paper
NM_003289.4
p.R101fs
c.301_302fs
1 paper
NM_003289.4
p.L99_R101delFs
c.296_302del7
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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."