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_001077182.3

p.R482fs

c.1444_1445fs

Surrounding Variants

1 paper

NM_001077182.3

p.R482delFs

c.1444delC

1 paper

NM_012418.4

p.G475G

c.1425C>G

1 paper

NM_012418.4

p.A481S

c.1441G>T

1 paper

NM_012418.4

p.G434G

c.1302C>T

1 paper

NM_012418.4

p.A481V

c.1442C>T

4 papers

NM_012418.4

p.A488V

c.1463C>T

1 paper

NM_012418.4

p.G425Splc

c.1273+6T>G

1 paper

NM_012418.4

p.Y421S

c.1262A>C

1 paper

NM_012418.4

p.S415delFs

c.1243_1244delAG

1 paper

NM_012418.4

p.V411I

c.1231G>A

1 paper

NM_012418.4

p.S407S

c.1221C>T

1 paper

NM_012418.4

p.R406P

c.1217G>C