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.P446H

c.1337C>A

Surrounding Variants

1 paper

NM_015033.3

p.M438delFs

c.1312delT

2 papers

NM_015033.3

p.R485Q

c.1454G>A

4 papers

NM_015033.3

p.S490N

c.1469G>A

1 paper

NM_015033.3

p.P505Q

c.1514C>A

1 paper

NM_015033.3

p.S517Splc

c.1551-9C>T

1 paper

NM_015033.3

p.T537A

c.1609A>G

1 paper

NM_015033.3

p.D540H

c.1618G>C

1 paper

NM_015033.3

p.D541H

c.1621G>C

1 paper

NM_015033.3

p.E542K

c.1624G>A

1 paper

NM_015033.3

p.E546*

c.1636G>T

1 paper

NM_015033.3

p.L549P

c.1646T>C

2 papers

NM_015033.3

p.M429T

c.1286T>C