Varaico: Literature-Extracted Genetic Variants

Gene:FMNL3
Variant:p.I228V

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
2 papers
NM_175736.5
p.I228V
c.682A>G
Surrounding Variants
1 paper
NM_175736.5
p.R216C
c.646C>T
1 paper
NM_175736.5
p.R264Splc
c.792-5C>T
1 paper
NM_175736.5
p.A288V
c.863C>T
1 paper
NM_175736.5
p.R197C
c.589C>T
1 paper
NM_175736.5
p.A196V
c.587C>T
1 paper
NM_175736.5
p.A193A
c.579T>C
1 paper
NM_175736.5
p.P181L
c.542C>T
1 paper
NM_175736.5
p.I175F
c.523A>T
1 paper
NM_175736.5
p.S174A
c.520T>G
1 paper
NM_175736.5
p.R169W
c.505C>T
1 paper
NM_175736.5
p.F303L
c.907T>C
1 paper
NM_175736.5
p.F303L
c.909T>G
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