Varaico: Literature-Extracted Genetic Variants

Gene:FMN1
Variant:p.T517M

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
1 paper
NM_001277313.2
p.T517M
c.1550C>T
Surrounding Variants
1 paper
NM_001277313.2
p.S512_H514del3
c.1534_1541del9
1 paper
NM_001277313.2
p.N505I
c.1514A>T
1 paper
NM_001277313.2
p.S493T
c.1477T>A
1 paper
NM_001277313.2
p.A549delFs
c.1646delG
1 paper
NM_001277313.2
p.P480L
c.1439C>T
1 paper
NM_001277313.2
p.R560C
c.1678C>T
1 paper
NM_001277313.2
p.L474R
c.1421T>G
1 paper
NM_001277313.2
p.S469F
c.1406C>T
1 paper
NM_001277313.2
p.R451C
c.1351C>T
1 paper
NM_001277313.2
p.L590L
c.1770C>T
1 paper
NM_001277313.2
p.G436R
c.1306G>C
1 paper
NM_001277313.2
p.G436R
c.1306G>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."