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.V17I

c.49G>A

Surrounding Variants

11 papers

NM_012418.4

p.L24delFs

c.72delG

4 papers

NM_012418.4

p.T25fs

c.73_74fs

1 paper

NM_012418.4

p.H7N

c.19C>A

1 paper

NM_012418.4

p.H7Y

c.19C>T

1 paper

NM_012418.4

p.E27delins

c.80delinsTCATCAC

1 paper

NM_012418.4

p.N4I

c.11A>T

1 paper

NM_012418.4

p.K32M

c.95A>T

1 paper

NM_012418.4

p.M1_P2insFs

c.3_4insT

2 papers

NM_012418.4

p.M1T

c.2T>C

2 papers

NM_012418.4

p.Q44*

c.130C>T

1 paper

NM_012418.4

p.E49A

c.146A>C

1 paper

NM_012418.4

p.P50L

c.149C>T