Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.K169E

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
Selected Variant
15 papers
NM_152263.4
p.K169E
c.505A>G
Surrounding Variants
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
1 paper
NM_152263.4
p.V171insFs
c.512_513ins41
1 paper
NM_152263.4
p.V166A
c.497T>C
1 paper
NM_152263.4
p.I172T
c.515T>C
1 paper
NM_152263.4
p.I172N
c.515T>A
1 paper
NM_152263.4
p.E165_V166Splc
c.496-1G>C
1 paper
NM_152263.4
p.I173T
c.518T>C
5 papers
NM_152263.4
p.E174A
c.521A>C
1 paper
NM_152263.4
p.E165_V166Splc
c.496-9T>C
1 paper
NM_152263.4
p.G175R
c.523G>C
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