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.E453_V454Splc

c.1359+1343A>G

Surrounding Variants

1 paper

NM_014608.6

p.E453_V454Splc

c.1359+938G>A

1 paper

NM_014608.6

p.E453_V454Splc

c.1359+1798T>C

1 paper

NM_014608.6

p.N442delFs

c.1324delT

1 paper

NM_014608.6

p.Y441C

c.1322A>G

1 paper

NM_014608.6

p.T439M

c.1316C>T

1 paper

NM_014608.6

p.Y435*

c.1305C>A

1 paper

NM_014608.6

p.E453_V454Splc

c.1359+2742A>G

1 paper

NM_014608.6

p.E434K

c.1300G>A

1 paper

NM_014608.6

p.A432T

c.1294G>A

1 paper

NM_014608.6

p.T420insFs

c.1258_1259insT

1 paper

NM_014608.6

p.V411_Y412Splc

c.1234-335G>A

1 paper

NM_014608.6

p.V411_Y412Splc

c.1233+741A>G