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.S582R

c.1746T>G

Surrounding Variants

1 paper

NM_014608.6

p.S582R

c.1746T>A

1 paper

NM_014608.6

p.S582I

c.1745G>T

1 paper

NM_014608.6

p.S582R

c.1744A>C

1 paper

NM_014608.6

p.T579T

c.1737C>T

1 paper

NM_014608.6

p.K578delFs

c.1733delT

1 paper

NM_014608.6

p.S574C

c.1720A>T

1 paper

NM_014608.6

p.E610delFs

c.1828delC

1 paper

NM_001033028.3

p.S117S

c.351T>A

1 paper

NM_014608.6

p.D544N

c.1630G>A

1 paper

NM_014608.6

p.G542insFs

c.1625_1626insTT

1 paper

NM_014608.6

p.S509Splc

c.1527-120T>G

1 paper

NM_014608.6

p.E610Splc

c.1829-54A>G