Varaico: Literature-Extracted Genetic Variants

Gene:FSCN1
Variant:p.H135Q

FSCN1

348 papers

RefSeq Summary

This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusion...

Pfam Domains

Fascinaa 20–134UCSCFascin domain
Fascinaa 142–256UCSCFascin domain
Fascinaa 268–378UCSCFascin domain
Fascinaa 391–493UCSCFascin domain

Gene Aliases

HGNC Name

fascin actin-bundling protein 1

HGNC Previous Symbol

SNL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003088.4
p.H135Q
c.405C>A
Surrounding Variants
1 paper
NM_003088.4
p.I136T
c.407T>C
1 paper
NM_003088.4
p.A137S
c.409G>T
1 paper
NM_003088.4
p.K131*
c.391A>T
1 paper
NM_003088.4
p.Q141L
c.422A>T
1 paper
NM_003088.4
p.E130Q
c.388G>C
1 paper
NM_003088.4
p.N143K
c.429C>A
1 paper
NM_003088.4
p.N143K
c.429C>G
1 paper
NM_003088.4
p.N143N
c.429C>T
1 paper
NM_003088.4
p.T125_V126insFs
c.375_376ins5
1 paper
NM_003088.4
p.R149ins1
c.446_447insAAC
1 paper
NM_003088.4
p.R149ins1
c.446_447insGAA
1 paper
NM_003088.4
p.C121Y
c.362G>A
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