Varaico: Literature-Extracted Genetic Variants

FLNA

945 papers

RefSeq Summary

The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cyto...

Pfam Domains

CHaa 43–150UCSCCalponin homology (CH) domain

CHaa 166–270UCSCCalponin homology (CH) domain

Filaminaa 278–371UCSCFilamin/ABP280 repeat

Filaminaa 378–471UCSCFilamin/ABP280 repeat

Filaminaa 477–567UCSCFilamin/ABP280 repeat

Filaminaa 573–660UCSCFilamin/ABP280 repeat

Gene Aliases

HGNC Name

filamin A

HGNC Previous Symbols

FLN1; FLN; OPD2; OPD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_001110556.2

p.D1184E

c.3552C>G

Surrounding Variants

7 papers

NM_001110556.2

p.D1184E

c.3552C>A

1 paper

NM_001110556.2

p.V1183L

c.3547G>T

1 paper

NM_001110556.2

p.V1183L

c.3547G>C

15 papers

NM_001110556.2

p.S1186L

c.3557C>T

1 paper

NM_001110556.2

p.S1186W

c.3557C>G

23 papers

NM_001110556.2

p.A1188T

c.3562G>A

3 papers

NM_001110556.2

p.A1191T

c.3571G>A

2 papers

NM_001110556.2

p.G1176E

c.3527G>A

4 papers

NM_001110556.2

p.L1193P

c.3578T>C

1 paper

NM_001110556.2

p.A1191_L1193delFs

c.3571_3577del7

2 papers

NM_001110556.2

p.A1175P

c.3523G>C

1 paper

NM_001110556.2

p.I1195fs

c.3583_3584fs