Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.A46S

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.A46S
c.136G>T
Surrounding Variants
1 paper
NM_152263.4
p.A46A
c.138C>A
1 paper
NM_152263.4
p.M47I
c.141G>T
1 paper
NM_152263.4
p.M47I
c.141G>C
1 paper
NM_152263.4
p.M47I
c.141G>A
2 papers
NM_152263.4
p.L44M
c.130C>A
2 papers
NM_152263.4
p.K49*
c.145A>T
2 papers
NM_152263.4
p.K49M
c.146A>T
1 paper
NM_152263.4
p.D42N
c.124G>A
1 paper
NM_152263.4
p.K50delFs
c.149delT
1 paper
NM_152263.4
p.E41V
c.122A>T
5 papers
NM_152263.4
p.E41K
c.121G>A
3 papers
NM_152263.4
p.K49del1
c.145_146delCTT
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