Varaico: Literature-Extracted Genetic Variants

Gene:TPM3

TPM3

394 papers

RefSeq Summary

This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other a...

Pfam Domains

Tropomyosinaa 2–84UCSCTropomyosin
Tropomyosinaa 2–84UCSCTropomyosin

Gene Aliases

HGNC Name

tropomyosin 3

HGNC Previous Symbol

NEM1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 189 variants
72 papers
NM_152263.4
p.M9R
c.26T>G
32 papers
NM_152263.4
p.R168H
c.503G>A
26 papers
NM_152263.4
p.R168C
c.502C>T
19 papers
NM_152263.4
p.R168G
c.502C>G
19 papers
NM_152263.4
p.R245G
c.733A>G
15 papers
NM_152263.4
p.K169E
c.505A>G
13 papers
NM_152263.4
p.R91P
c.272G>C
12 papers
NM_152263.4
p.L100M
c.298C>A
10 papers
NM_152263.4
p.A4V
c.11C>T
9 papers
NM_152263.4
p.R91C
c.271C>T
9 papers
NM_152263.4
p.A156T
c.466G>A
7 papers
NM_152263.4
p.K52I
c.155A>T
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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."