Varaico: Literature-Extracted Genetic Variants

Gene:TMOD1
Variant:p.I190L

TMOD1

41 papers

RefSeq Summary

This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongati...

Pfam Domains

Tropomodulinaa 3–143UCSCTropomodulin
LRR_TMOD-LMODaa 179–338UCSCTMOD/LMOD Leucine-rich domain

Gene Aliases

HGNC Name

tropomodulin 1

HGNC Previous Symbol

D9S57E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003275.4
p.I190L
c.568A>T
Surrounding Variants
1 paper
NM_003275.4
p.I190L
c.568A>C
1 paper
NM_003275.4
p.K191Q
c.571A>C
2 papers
NM_003275.4
p.R189W
c.565C>T
1 paper
NM_003275.4
p.T186M
c.557C>T
1 paper
NM_003275.4
p.V183L
c.547G>C
1 paper
NM_003275.4
p.V183L
c.547G>T
1 paper
NM_003275.4
p.S180L
c.539C>T
1 paper
NM_003275.4
p.E176D
c.528A>C
1 paper
NM_003275.4
p.E176D
c.528A>T
2 papers
NM_003275.4
p.E176K
c.526G>A
1 paper
NM_003275.4
p.D175N
c.523G>A
3 papers
NM_003275.4
p.Q144K
c.430C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."