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.R109S

c.325C>A

Surrounding Variants

17 papers

NM_012418.4

p.R109H

c.326G>A

1 paper

NM_012418.4

p.P106L

c.317C>T

1 paper

NM_012418.4

p.P106_F111del6

c.316_332del18

1 paper

NM_012418.4

p.E105Q

c.313G>C

1 paper

NM_012418.4

p.T114A

c.340A>G

1 paper

NM_012418.4

p.R99L

c.296G>T

1 paper

NM_012418.4

p.G98R

c.292G>A

1 paper

NM_012418.4

p.A122T

c.364G>A

1 paper

NM_012418.4

p.P94L

c.281C>T

1 paper

NM_012418.4

p.P94S

c.280C>T

1 paper

NM_012418.4

p.S126F

c.377C>T

1 paper

NM_012418.4

p.A128_W131delFs

c.383_392del10