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

2 papers

NM_175736.5

p.I458L

c.1372A>C

Surrounding Variants

1 paper

NM_175736.5

p.R455W

c.1363C>T

1 paper

NM_175736.5

p.R476Q

c.1427G>A

1 paper

NM_175736.5

p.E479*

c.1435G>T

1 paper

NM_175736.5

p.S480F

c.1439C>T

1 paper

NM_175736.5

p.S495N

c.1484G>A

1 paper

NM_175736.5

p.P512L

c.1535C>T

1 paper

NM_175736.5

p.P524L

c.1571C>T

1 paper

NM_175736.5

p.P564H

c.1691C>A

1 paper

NM_175736.5

p.D593N

c.1777G>A

1 paper

NM_175736.5

p.K441_E442Splc

c.1323+1G>A

1 paper

NM_175736.5

p.E434*

c.1300G>T

1 paper

NM_175736.5

p.A424ins1

c.1270_1271insTGG