Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.S283A

TPM1

889 papers

RefSeq Summary

This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of...

Pfam Domains

Tropomyosinaa 66–284UCSCTropomyosin

Gene Aliases

HGNC Name

tropomyosin 1

HGNC Previous Symbols

C15orf13; CMH3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_001018005.2
p.S283A
c.847T>G
Surrounding Variants
8 papers
NM_001018005.2
p.T282S
c.845C>G
1 paper
NM_001018005.2
p.I284L
c.850A>C
18 papers
NM_001018005.2
p.I284V
c.850A>G
6 papers
NM_001018005.2
p.T282S
c.844A>T
1 paper
NM_001018005.2
p.I284L
c.850A>T
1 paper
NM_001018005.2
p.M281I
c.843G>A
1 paper
NM_001018005.2
p.M281I
c.843G>C
1 paper
NM_001018005.2
p.M281I
c.843G>T
1 paper
NM_001018005.2
p.I284T
c.851T>C
1 paper
NM_001018005.2
p.I284M
c.852A>G
41 papers
NM_001018005.2
p.M281T
c.842T>C
2 papers
NM_001018005.2
p.M281R
c.842T>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."