Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.K212Q

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.K212Q
c.634A>C
Surrounding Variants
1 paper
NM_198271.5
p.K220E
c.658A>G
3 papers
NM_198271.5
p.D201delFs
c.601_602delTC
3 papers
NM_198271.5
p.D201fs
c.601_602fs
4 papers
NM_198271.5
p.D242fs
c.724_725fs
3 papers
NM_198271.5
p.D242fs
c.724_725fs
7 papers
NM_198271.5
p.L241_L245delFs
c.723_733del11
3 papers
NM_198271.5
p.L245del1
c.733_734delCAA
1 paper
NM_198271.5
p.T169M
c.506C>T
1 paper
NM_198271.5
p.E151_D152ins0
c.453_455dupAGA
1 paper
NM_198271.5
p.E151del1
c.451_452delTTC
2 papers
NM_198271.5
p.E151D
c.453A>T
2 papers
NM_198271.5
p.E151D
c.453A>C
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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."