Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.R182G

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
2 papers
NM_003289.4
p.R182G
c.544A>G
Surrounding Variants
1 paper
NM_003289.4
p.R182W
c.544A>T
12 papers
NM_003289.4
p.E181K
c.541G>A
1 paper
NM_003289.4
p.E180V
c.539A>T
19 papers
NM_003289.4
p.E180G
c.539A>G
1 paper
NM_003289.4
p.E180*
c.538G>T
1 paper
NM_003289.4
p.A186_S188del0
c.558_563del6
1 paper
NM_003289.4
p.E175K
c.523G>A
3 papers
NM_003289.4
p.E173A
c.518A>C
1 paper
NM_003289.4
p.V170L
c.508G>T
1 paper
NM_003289.4
p.V170L
c.508G>C
5 papers
NM_003289.4
p.K168E
c.502A>G
1 paper
NM_003289.4
p.R167G
c.499A>G
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