Varaico: Literature-Extracted Genetic Variants

FSCN2

149 papers

RefSeq Summary

This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor...

Pfam Domains

Fascinaa 20–133UCSCFascin domain

Fascinaa 141–254UCSCFascin domain

Fascinaa 266–376UCSCFascin domain

Fascinaa 389–492UCSCFascin domain

Gene Aliases

HGNC Name

fascin actin-bundling protein 2, retinal

HGNC Alias Symbols

RP30; RFSN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012418.4

p.H64P

c.191A>C

Surrounding Variants

1 paper

NM_012418.4

p.S70delFs

c.208delT

1 paper

NM_012418.4

p.S70L

c.209C>T

1 paper

NM_012418.4

p.R76C

c.226C>T

1 paper

NM_012418.4

p.R76H

c.227G>A

1 paper

NM_012418.4

p.P50L

c.149C>T

1 paper

NM_012418.4

p.E49A

c.146A>C

1 paper

NM_012418.4

p.P84A

c.250C>G

1 paper

NM_012418.4

p.P84L

c.251C>T

2 papers

NM_012418.4

p.Q44*

c.130C>T

1 paper

NM_012418.4

p.D87N

c.259G>A

1 paper

NM_012418.4

p.P94S

c.280C>T

1 paper

NM_012418.4

p.P94L

c.281C>T