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.I383_F392del10

c.1147_1175del30

Surrounding Variants

1 paper

NM_012418.4

p.R381Q

c.1142G>A

1 paper

NM_012418.4

p.I383I

c.1149C>T

1 paper

NM_012418.4

p.L384L

c.1150C>T

1 paper

NM_012418.4

p.E372_T375delFs

c.1115_1125del11

1 paper

NM_012418.4

p.K370fs

c.1108_1109fs

1 paper

NM_012418.4

p.G369D

c.1106G>A

1 paper

NM_012418.4

p.R406P

c.1217G>C

1 paper

NM_012418.4

p.S407S

c.1221C>T

1 paper

NM_012418.4

p.V411I

c.1231G>A

1 paper

NM_012418.4

p.S415delFs

c.1243_1244delAG

1 paper

NM_012418.4

p.Y421S

c.1262A>C

1 paper

NM_012418.4

p.G425Splc

c.1273+6T>G