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

1–12 of 66 variants

6 papers

NM_015033.3

p.S336Y

c.1007C>A

4 papers

NM_015033.3

p.S490N

c.1469G>A

2 papers

NM_015033.3

p.R104H

c.311G>A

2 papers

NM_015033.3

p.M429T

c.1286T>C

2 papers

NM_015033.3

p.R485Q

c.1454G>A

1 paper

NM_015033.3

p.M1_S2insFs

c.3_4insA

1 paper

NM_015033.3

p.S2T

c.5G>C

1 paper

NM_015033.3

p.H17Fs

c.51delinsTCFs

1 paper

NM_015033.3

p.K33Q

c.97A>C

1 paper

NM_015033.3

p.T36del1

c.106_108delTGT

1 paper

NM_015033.3

p.R35_L40del0

c.105_119del15

1 paper

NM_015033.3

p.E39_S41delins

c.116_122delinsC