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.D990delFs

c.2968delC

Surrounding Variants

1 paper

NM_175736.5

p.G999Splc

c.2995+180C>T

1 paper

NM_175736.5

p.L947L

c.2839C>T

1 paper

NM_175736.5

p.Q1003R

c.3008A>G

1 paper

NM_175736.5

p.R853Q

c.2558G>A

1 paper

NM_175736.5

p.E829V

c.2486A>T

1 paper

NM_175736.5

p.V816V

c.2448G>A

1 paper

NM_175736.5

p.A753V

c.2258C>T

1 paper

NM_175736.5

p.R712C

c.2134C>T

1 paper

NM_175736.5

p.R699Q

c.2096G>A

1 paper

NM_175736.5

p.T667K

c.2000C>A

1 paper

NM_175736.5

p.T667K

c.2000C>A

1 paper

NM_175736.5

p.A658D

c.1973C>A