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.R118C

c.352C>T

Surrounding Variants

1 paper

NM_175736.5

p.V103L

c.307G>T

1 paper

NM_175736.5

p.V103L

c.307G>C

1 paper

NM_175736.5

p.K97_K98Splc

c.292-1G>A

1 paper

NM_175736.5

p.V94V

c.282A>G

1 paper

NM_175736.5

p.P78S

c.232C>T

1 paper

NM_175736.5

p.Q70_E71Splc

c.211-43C>T

1 paper

NM_175736.5

p.Q57R

c.170A>G

1 paper

NM_175736.5

p.S43C

c.127A>T

1 paper

NM_175736.5

p.E127K

c.379G>A

1 paper

NM_175736.5

p.R169W

c.505C>T

1 paper

NM_175736.5

p.S174A

c.520T>G

1 paper

NM_175736.5

p.I175F

c.523A>T