Varaico: Literature-Extracted Genetic Variants

FLNC

845 papers

RefSeq Summary

This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the...

Pfam Domains

CHaa 36–143UCSCCalponin homology (CH) domain

CHaa 159–263UCSCCalponin homology (CH) domain

Filaminaa 272–365UCSCFilamin/ABP280 repeat

Filaminaa 372–465UCSCFilamin/ABP280 repeat

Filaminaa 471–562UCSCFilamin/ABP280 repeat

Filaminaa 568–655UCSCFilamin/ABP280 repeat

Gene Aliases

HGNC Name

filamin C

HGNC Previous Symbol

FLN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

68 papers

NM_001458.5

p.W2710*

c.8130G>A

Surrounding Variants

68 papers

NM_001458.5

p.W2710*

c.8129G>A

1 paper

NM_001458.5

p.V2708I

c.8122G>A

3 papers

NM_001458.5

p.I2707I

c.8121T>C

1 paper

NM_001458.5

p.V2715delFs

c.8143_8144delGT

1 paper

NM_001458.5

p.L2706L

c.8118C>T

1 paper

NM_001458.5

p.V2715fs

c.8143_8144fs

3 papers

NM_001458.5

p.Y2704*

c.8112C>A

3 papers

NM_001458.5

p.Y2704*

c.8112C>G

3 papers

NM_001458.5

p.Y2704delFs

c.8112delC

1 paper

NM_001458.5

p.Y2704insFs

c.8110_8111insC

1 paper

NM_001458.5

p.Y2704fs

c.8110_8111fs

2 papers

NM_001458.5

p.D2703fs

c.8107_8108fs