Varaico: Literature-Extracted Genetic Variants

Gene:TPM4
Variant:p.D218N

TPM4

50 papers

RefSeq Summary

This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins ...

Pfam Domains

Tropomyosinaa 7–248UCSCTropomyosin

Gene Aliases

HGNC Name

tropomyosin 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003290.3
p.D218N
c.652G>A
Surrounding Variants
1 paper
NM_003290.3
p.D218Y
c.652G>T
1 paper
NM_003290.3
p.D218G
c.653A>G
2 papers
NM_003290.3
p.E180G
c.539A>G
1 paper
NM_003290.3
p.S179F
c.536C>T
1 paper
NM_003290.3
p.A173_E176del4
c.517_527del12
3 papers
NM_001145160.2
p.A183V
c.548C>T
NM_003290.3
p.A147V
c.440C>T
2 papers
NM_001145160.2
p.R182C
c.544C>T
NM_003290.3
p.R146C
c.436C>T
1 paper
NM_003290.3
p.E145K
c.433G>A
1 paper
NM_003290.3
p.L133R
c.398T>G
1 paper
NM_003290.3
p.V129delFs
c.385delG
1 paper
NM_003290.3
p.K116R
c.347A>G
1 paper
NM_003290.3
p.E109K
c.325G>A
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