Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.L100V

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
2 papers
NM_152263.4
p.L100V
c.298C>G
Surrounding Variants
12 papers
NM_152263.4
p.L100M
c.298C>A
1 paper
NM_152263.4
p.E99A
c.296A>C
1 paper
NM_152263.4
p.D101Y
c.301G>T
1 paper
NM_152263.4
p.D101N
c.301G>A
1 paper
NM_152263.4
p.E99K
c.295G>A
1 paper
NM_152263.4
p.E99_D101delFs
c.296_302del7
1 paper
NM_152263.4
p.E98K
c.292G>A
1 paper
NM_152263.4
p.E97K
c.289G>A
1 paper
NM_152263.4
p.R106H
c.317G>A
1 paper
NM_152263.4
p.I93I
c.279C>A
1 paper
NM_152263.4
p.L107R
c.320T>G
1 paper
NM_152263.4
p.R92K
c.275G>A
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