Varaico: Literature-Extracted Genetic Variants

FNBP1L

56 papers

RefSeq Summary

The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway ...

Pfam Domains

FCHaa 10–88UCSCFes/CIP4, and EFC/F-BAR homology domain

HR1_TOCAaa 390–479UCSCTOCA family HR1 domain

SH3_1aa 544–591UCSCSH3 domain

Gene Aliases

HGNC Name

formin binding protein 1 like

HGNC Previous Symbol

C1orf39

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001164473.3

p.R65W

c.193C>T

Surrounding Variants

1 paper

NM_001164473.3

p.Y53*

c.159C>A

1 paper

NM_001164473.3

p.Y53*

c.159C>G

1 paper

NM_001164473.3

p.K52Q

c.154A>C

1 paper

NM_001164473.3

p.K51Q

c.151A>C

1 paper

NM_001164473.3

p.R47Splc

c.141-4A>G

1 paper

NM_001164473.3

p.F72fs

c.214_215fs

1 paper

NM_001164473.3

p.F73L

c.217T>C

1 paper

NM_001164473.3

p.F73L

c.219T>A

1 paper

NM_001164473.3

p.F73L

c.219T>G

1 paper

NM_001164473.3

p.N74fs

c.220_221fs

1 paper

NM_001164473.3

p.L79*

c.236T>A

1 paper

NM_001164473.3

p.L79*

c.236T>G