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

1 paper

NM_001164473.3

p.N195H

c.583A>C

Surrounding Variants

1 paper

NM_001164473.3

p.E188K

c.562G>A

1 paper

NM_001164473.3

p.K170_A171Splc

c.510+2T>C

1 paper

NM_001164473.3

p.V168fs

c.502_503fs

1 paper

NM_001164473.3

p.V168delFs

c.503delT

1 paper

NM_001164473.3

p.A234D

c.701C>A

1 paper

NM_001164473.3

p.S236L

c.707C>T

1 paper

NM_001164473.3

p.P242T

c.724C>A

1 paper

NM_001164473.3

p.S270C

c.809C>G

1 paper

NM_001164473.3

p.S270S

c.810C>T

1 paper

NM_001164473.3

p.K327K

c.981G>A

1 paper

NM_001164473.3

p.K328N

c.984G>C

1 paper

NM_001164473.3

p.K328N

c.984G>T