Varaico: Literature-Extracted Genetic Variants

Gene:FMN1
Variant:p.L686P

FMN1

107 papers

RefSeq Summary

This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse ...

Pfam Domains

FH2aa 972–1363UCSCFormin Homology 2 Domain

Gene Aliases

HGNC Name

formin 1

HGNC Previous Symbol

LD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001277313.2
p.L686P
c.2057T>C
Surrounding Variants
1 paper
NM_001277313.2
p.L697R
c.2090T>G
1 paper
NM_001277313.2
p.Q698*
c.2092C>T
1 paper
NM_001277313.2
p.P704P
c.2112A>C
1 paper
NM_001103184.4
p.S88L
c.263C>T
1 paper
NM_001277313.2
p.H681_P682Splc
c.2044-2675G>C
1 paper
NM_001277313.2
p.H681_P682Splc
c.2044-2701C>A
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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."