Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.P527S

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.P527S
c.1579C>T
Surrounding Variants
2 papers
NM_198271.5
p.R543L
c.1628G>T
1 paper
NM_198271.5
p.E507K
c.1519G>A
1 paper
NM_198271.5
p.P506H
c.1517C>A
3 papers
NM_198271.5
p.L550F
c.1648C>T
3 papers
NM_198271.5
p.P552H
c.1655C>A
1 paper
NM_198271.5
p.R498L
c.1493G>T
1 paper
NM_198271.5
p.R498Q
c.1493G>A
1 paper
NM_198271.5
p.K471delFs
c.1412delT
1 paper
NM_198271.5
p.K471fs
c.1411_1412fs
1 paper
NM_198271.5
p.R465C
c.1393C>T
3 papers
NM_198271.5
p.Q458*
c.1372C>T
1 paper
NM_198271.5
p.G429fs
c.1285_1286fs
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