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.S329fs

c.985_986fs

Surrounding Variants

1 paper

NM_012418.4

p.N331H

c.991A>C

1 paper

NM_012418.4

p.E335Q

c.1003G>C

1 paper

NM_012418.4

p.R341W

c.1021C>T

3 papers

NM_012418.4

p.R342Q

c.1025G>A

1 paper

NM_012418.4

p.V343G

c.1028T>G

1 paper

NM_012418.4

p.L345F

c.1033C>T

1 paper

NM_012418.4

p.A347V

c.1040C>T

1 paper

NM_012418.4

p.N349N

c.1047C>T

1 paper

NM_012418.4

p.G350R

c.1048G>A

1 paper

NM_012418.4

p.G350R

c.1048G>C

4 papers

NM_012418.4

p.V353M

c.1057G>A

1 paper

NM_012418.4

p.C354C

c.1062C>T