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.Y270Y

c.810C>T

Surrounding Variants

1 paper

NM_012418.4

p.R274W

c.820C>T

1 paper

NM_012418.4

p.H258_Q260ins1

c.774_779dup6

1 paper

NM_012418.4

p.E256D

c.768G>T

1 paper

NM_012418.4

p.E250fs

c.748_749fs

1 paper

NM_012418.4

p.E250delFs

c.749delA

1 paper

NM_012418.4

p.A240T

c.718G>A

6 papers

NM_012418.4

p.P231S

c.691C>T

1 paper

NM_012418.4

p.D225Y

c.673G>T

1 paper

NM_012418.4

p.A216P

c.646G>C

1 paper

NM_012418.4

p.T211T

c.633G>A

1 paper

NM_012418.4

p.R207C

c.619C>T

1 paper

NM_012418.4

p.E203D

c.609G>C