Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.E104V

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
1 paper
NM_198271.5
p.E104V
c.311A>T
Surrounding Variants
2 papers
NM_198271.5
p.K100_Q102delFs
c.300_304del5
3 papers
NM_198271.5
p.T101fs
c.301_302fs
1 paper
NM_198271.5
p.I108K
c.323T>A
1 paper
NM_198271.5
p.K100M
c.299A>T
3 papers
NM_198271.5
p.Q117*
c.349C>T
1 paper
NM_198271.5
p.E121*
c.361G>T
2 papers
NM_198271.5
p.K120insFs
c.360dupA
1 paper
NM_198271.5
p.E121K
c.361G>A
3 papers
NM_198271.5
p.E121fs
c.361_362fs
1 paper
NM_198271.5
p.E121fs
c.361_362fs
2 papers
NM_198271.5
p.K122fs
c.364_365fs
3 papers
NM_198271.5
p.K122delFs
c.366delC
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