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.T36del1

c.106_108delTGT

Surrounding Variants

1 paper

NM_015033.3

p.R35_L40del0

c.105_119del15

1 paper

NM_015033.3

p.K33Q

c.97A>C

1 paper

NM_015033.3

p.E39_S41delins

c.116_122delinsC

1 paper

NM_015033.3

p.A43_K44del1

c.129_131delTTT

1 paper

NM_015033.3

p.S41_Q45del0

c.123_134del12

1 paper

NM_015033.3

p.I38_L46del0

c.112_138del27

1 paper

NM_015033.3

p.R47Splc

c.140+1G>T

1 paper

NM_015033.3

p.S41_L46del0

c.121_138del18

1 paper

NM_015033.3

p.R35_L46del0

c.103_138del36

1 paper

NM_015033.3

p.H17Fs

c.51delinsTCFs