Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.E241G

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.E241G
c.722A>G
Surrounding Variants
7 papers
NM_152263.4
p.E241K
c.721G>A
1 paper
NM_152263.4
p.A243T
c.727G>A
1 paper
NM_152263.4
p.R239C
c.715C>T
2 papers
NM_152263.4
p.E244D
c.732G>T
2 papers
NM_152263.4
p.E244D
c.732G>C
1 paper
NM_152263.4
p.E237D
c.711G>T
1 paper
NM_152263.4
p.E237D
c.711G>C
19 papers
NM_152263.4
p.R245G
c.733A>G
3 papers
NM_152263.4
p.R245I
c.734G>T
2 papers
NM_152263.4
p.R245T
c.734G>C
2 papers
NM_152263.4
p.E237K
c.709G>A
1 paper
NM_152263.4
p.R245delFs
c.734_735delTC
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