Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.D20_A22del3

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
6 papers
NM_003289.4
p.D20_A22del3
c.58_65del9
Surrounding Variants
1 paper
NM_003289.4
p.Q24*
c.70C>T
1 paper
NM_003289.4
p.E23Q
c.67G>C
4 papers
NM_003289.4
p.D20H
c.58G>C
1 paper
NM_003289.4
p.A27V
c.80C>T
1 paper
NM_003289.4
p.A18A
c.54C>G
1 paper
NM_003289.4
p.A18A
c.54C>A
1 paper
NM_003289.4
p.K30M
c.89A>T
3 papers
NM_003289.4
p.K15N
c.45G>T
3 papers
NM_003289.4
p.K15N
c.45G>C
4 papers
NM_003289.4
p.D14V
c.41A>T
1 paper
NM_003289.4
p.E33V
c.98A>T
1 paper
NM_003289.4
p.L13Q
c.38T>A
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