Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.L245del1

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.L245del1
c.733_734delCAA
Surrounding Variants
7 papers
NM_198271.5
p.L241_L245delFs
c.723_733del11
3 papers
NM_198271.5
p.D242fs
c.724_725fs
4 papers
NM_198271.5
p.D242fs
c.724_725fs
1 paper
NM_198271.5
p.K220E
c.658A>G
1 paper
NM_198271.5
p.K212Q
c.634A>C
2 papers
NM_198271.5
p.K282E
c.844A>G
3 papers
NM_198271.5
p.F287fs
c.859_860fs
2 papers
NM_198271.5
p.F287delFs
c.860delA
3 papers
NM_198271.5
p.D201delFs
c.601_602delTC
3 papers
NM_198271.5
p.D201fs
c.601_602fs
1 paper
NM_198271.5
p.N291S
c.872A>G
3 papers
NM_198271.5
p.G293D
c.878G>A
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