Varaico: Literature-Extracted Genetic Variants

Gene:FMN1
Variant:p.S163S

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.S163S
c.489T>C
Surrounding Variants
1 paper
NM_001277313.2
p.P159L
c.476C>T
1 paper
NM_001277313.2
p.F169S
c.506T>C
1 paper
NM_001277313.2
p.A171_L172del1
c.512_514delGGG
1 paper
NM_001277313.2
p.R185L
c.554G>T
1 paper
NM_001277313.2
p.A127S
c.379G>T
3 papers
NM_001277313.2
p.S123F
c.368C>T
1 paper
NM_001277313.2
p.E116_K118del0
c.346_354del9
1 paper
NM_001277313.2
p.E116D
c.348G>T
1 paper
NM_001277313.2
p.E116D
c.348G>C
1 paper
NM_001277313.2
p.L211I
c.631C>A
1 paper
NM_001277313.2
p.K217I
c.650A>T
1 paper
NM_001277313.2
p.D105_H106insFs
c.315_316insC
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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."