Varaico: Literature-Extracted Genetic Variants

FNBP1

66 papers

RefSeq Summary

The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-...

Pfam Domains

FCHaa 10–89UCSCFes/CIP4, and EFC/F-BAR homology domain

HR1_TOCAaa 397–486UCSCTOCA family HR1 domain

SH3_1aa 556–603UCSCSH3 domain

Gene Aliases

HGNC Name

formin binding protein 1

HGNC Alias Symbols

FBP17; KIAA0554

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015033.3

p.N328fs

c.982_983fs

Surrounding Variants

1 paper

NM_015033.3

p.N328fs

c.982_983fs

1 paper

NM_015033.3

p.N328delFs

c.983delT

1 paper

NM_015033.3

p.P323insFs

c.967_968insAA

1 paper

NM_015033.3

p.P323ins3

c.967_968ins9

1 paper

NM_015033.3

p.K316R

c.947A>G

1 paper

NM_015033.3

p.G315D

c.944G>A

1 paper

NM_015033.3

p.S296*

c.887C>G

1 paper

NM_015033.3

p.S296*

c.887C>A

1 paper

NM_015033.3

p.R293C

c.877C>T

1 paper

NM_015033.3

p.G275E

c.824G>A

1 paper

NM_015033.3

p.T335Fs

c.1003delinsGAFs

6 papers

NM_015033.3

p.S336Y

c.1007C>A