Varaico: Literature-Extracted Genetic Variants

CYFIP1

168 papers

RefSeq Summary

This gene encodes a protein that regulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE regulatory complex (WRC), which promotes actin polymerization. ...

Pfam Domains

CYRIA-B_Rac1-bdaa 59–303UCSCCYRIA/CYRIB Rac1 binding domain

FragX_IPaa 341–1225UCSCCytoplasmic Fragile-X interacting family

Gene Aliases

HGNC Name

cytoplasmic FMR1 interacting protein 1

HGNC Alias Symbols

KIAA0068; P140SRA-1; SHYC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014608.6

p.S509Splc

c.1527-120T>G

Surrounding Variants

1 paper

NM_014608.6

p.G542insFs

c.1625_1626insTT

1 paper

NM_014608.6

p.D544N

c.1630G>A

1 paper

NM_014608.6

p.S509Splc

c.1526+46G>A

1 paper

NM_014608.6

p.V506I

c.1516G>A

1 paper

NM_014608.6

p.A499T

c.1495G>A

1 paper

NM_014608.6

p.E494Fs

c.1482delinsGCCAGGFs

1 paper

NM_014608.6

p.D486H

c.1456G>C

4 papers

NM_014608.6

p.I476V

c.1426A>G

1 paper

NM_014608.6

p.F472L

c.1416C>G

1 paper

NM_014608.6

p.F472L

c.1416C>A

1 paper

NM_014608.6

p.M468I

c.1404G>T

1 paper

NM_014608.6

p.M468I

c.1404G>C