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

1–12 of 117 variants

17 papers

NM_012418.4

p.R109H

c.326G>A

11 papers

NM_012418.4

p.L24delFs

c.72delG

7 papers

NM_012418.4

p.H138Y

c.412C>T

6 papers

NM_012418.4

p.P231S

c.691C>T

4 papers

NM_012418.4

p.T25fs

c.73_74fs

4 papers

NM_012418.4

p.V353M

c.1057G>A

4 papers

NM_012418.4

p.A488V

c.1463C>T

3 papers

NM_012418.4

p.V152M

c.454G>A

3 papers

NM_012418.4

p.R342Q

c.1025G>A

3 papers

NM_012418.4

p.K357del1

c.1069_1070delAAG

2 papers

NM_012418.4

p.M1T

c.2T>C

2 papers

NM_012418.4

p.Q44*

c.130C>T