Varaico: Literature-Extracted Genetic Variants

Gene:FMN1
Variant:p.S272G

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.S272G
c.814A>G
Surrounding Variants
1 paper
NM_001277313.2
p.P269fs
c.805_806fs
3 papers
NM_001277313.2
p.P269A
c.805C>G
1 paper
NM_001277313.2
p.P268A
c.802C>G
1 paper
NM_001277313.2
p.K258E
c.772A>G
1 paper
NM_001277313.2
p.S286N
c.857G>A
1 paper
NM_001277313.2
p.S286S
c.858C>T
1 paper
NM_001277313.2
p.G287R
c.859G>C
1 paper
NM_001277313.2
p.E254delins
c.760_761delinsAA
1 paper
NM_001277313.2
p.T243M
c.728C>T
1 paper
NM_001277313.2
p.E303K
c.907G>A
1 paper
NM_001277313.2
p.M313R
c.938T>G
1 paper
NM_001277313.2
p.K315_P316insC
c.943_947ins3
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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."