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

1–12 of 74 variants

3 papers

NM_175736.5

p.E13D

c.39G>T

3 papers

NM_175736.5

p.E13D

c.39G>C

2 papers

NM_175736.5

p.F38L

c.112T>C

2 papers

NM_175736.5

p.F38L

c.114C>G

2 papers

NM_175736.5

p.F38L

c.114C>A

2 papers

NM_175736.5

p.I228V

c.682A>G

2 papers

NM_175736.5

p.I458L

c.1372A>C

1 paper

NM_175736.5

p.N3N

c.9C>T

1 paper

NM_175736.5

p.E8*

c.22G>T

1 paper

NM_175736.5

p.E8K

c.22G>A

1 paper

NM_175736.5

p.M26I

c.78G>T

1 paper

NM_175736.5

p.M26I

c.78G>C