Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.L89S

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
1 paper
NM_152263.4
p.L89S
c.266T>C
Surrounding Variants
4 papers
NM_152263.4
p.S88F
c.263C>T
1 paper
NM_152263.4
p.S88Y
c.263C>A
9 papers
NM_152263.4
p.R91C
c.271C>T
4 papers
NM_152263.4
p.R91G
c.271C>G
1 paper
NM_152263.4
p.R91S
c.271C>A
13 papers
NM_152263.4
p.R91P
c.272G>C
2 papers
NM_152263.4
p.R92W
c.274A>T
1 paper
NM_152263.4
p.R92K
c.275G>A
1 paper
NM_152263.4
p.E85*
c.253G>T
1 paper
NM_152263.4
p.I93I
c.279C>A
1 paper
NM_152263.4
p.E83delFs
c.247delC
1 paper
NM_152263.4
p.E97K
c.289G>A
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