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.R207C

c.619C>T

Surrounding Variants

1 paper

NM_012418.4

p.E203D

c.609G>C

1 paper

NM_012418.4

p.E203D

c.609G>T

1 paper

NM_012418.4

p.E203Q

c.607G>C

1 paper

NM_012418.4

p.T211T

c.633G>A

1 paper

NM_012418.4

p.A216P

c.646G>C

1 paper

NM_012418.4

p.D197A

c.590A>C

1 paper

NM_012418.4

p.D197_R199delFs

c.591_597del7

1 paper

NM_012418.4

p.R195R

c.585C>T

1 paper

NM_012418.4

p.R195H

c.584G>A

1 paper

NM_012418.4

p.L194P

c.581T>C

1 paper

NM_012418.4

p.R192C

c.574C>T

1 paper

NM_012418.4

p.D190N

c.568G>A