Varaico: Literature-Extracted Genetic Variants

FMNL3

58 papers

RefSeq Summary

The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been describ...

Pfam Domains

Drf_GBDaa 26–149UCSCDiaphanous GTPase-binding Domain

Drf_GBDaa 209–278UCSCDiaphanous GTPase-binding Domain

Drf_FH3aa 283–474UCSCDiaphanous FH3 Domain

FH2aa 561–926UCSCFormin Homology 2 Domain

Gene Aliases

HGNC Name

formin like 3

HGNC Alias Symbols

DKFZp762B245; MGC45819; WBP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_175736.5

p.H404Y

c.1210C>T

Surrounding Variants

1 paper

NM_175736.5

p.V378M

c.1132G>A

1 paper

NM_175736.5

p.A373ins1

c.1117_1118insTGG

1 paper

NM_175736.5

p.S364insFs

c.1091_1092insC

1 paper

NM_175736.5

p.E418K

c.1252G>A

1 paper

NM_175736.5

p.A424ins1

c.1270_1271insTGG

1 paper

NM_175736.5

p.E434*

c.1300G>T

1 paper

NM_175736.5

p.K441_E442Splc

c.1323+1G>A

1 paper

NM_175736.5

p.R311W

c.931C>T

1 paper

NM_175736.5

p.F303L

c.909T>G

1 paper

NM_175736.5

p.F303L

c.909T>A

1 paper

NM_175736.5

p.F303L

c.907T>C

1 paper

NM_175736.5

p.R455W

c.1363C>T