Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.Q408K

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.Q408K
c.1222C>A
Surrounding Variants
2 papers
NM_198271.5
p.K406delFs
c.1218delT
3 papers
NM_198271.5
p.K406fs
c.1216_1217fs
3 papers
NM_198271.5
p.R401*
c.1201C>T
1 paper
NM_198271.5
p.K415delFs
c.1243_1244delTT
2 papers
NM_198271.5
p.I417L
c.1249A>T
1 paper
NM_198271.5
p.I417L
c.1249A>C
1 paper
NM_198271.5
p.Q397R
c.1190A>G
1 paper
NM_198271.5
p.L420*
c.1259T>A
1 paper
NM_198271.5
p.N388K
c.1164T>G
1 paper
NM_198271.5
p.N388K
c.1164T>A
1 paper
NM_198271.5
p.P428insFs
c.1283dupC
1 paper
NM_198271.5
p.G429fs
c.1285_1286fs
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