Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.E142D

LMOD3

92 papers

RefSeq Summary

The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-A...

Pfam Domains

Tropomodulinaa 7–134UCSCTropomodulin
LRR_TMOD-LMODaa 237–396UCSCTMOD/LMOD Leucine-rich domain

Gene Aliases

HGNC Name

leiomodin 3

HGNC Previous Name

leiomodin 3 (fetal)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_198271.5
p.E142D
c.426A>T
Surrounding Variants
3 papers
NM_198271.5
p.E142D
c.426A>C
1 paper
NM_198271.5
p.E148D
c.444A>T
1 paper
NM_198271.5
p.E148D
c.444A>C
2 papers
NM_198271.5
p.E151D
c.453A>T
2 papers
NM_198271.5
p.E151D
c.453A>C
1 paper
NM_198271.5
p.E151_D152ins0
c.453_455dupAGA
1 paper
NM_198271.5
p.E151del1
c.451_452delTTC
3 papers
NM_198271.5
p.K122delFs
c.366delC
2 papers
NM_198271.5
p.K122fs
c.364_365fs
1 paper
NM_198271.5
p.E121fs
c.361_362fs
1 paper
NM_198271.5
p.E121*
c.361G>T
2 papers
NM_198271.5
p.K120insFs
c.360dupA
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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."