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.Q303_V304del2

c.907_911del6

Surrounding Variants

2 papers

NM_014608.6

p.V304_V305del1

c.912_914delACC

1 paper

NM_014608.6

p.V305del1

c.913_914delAAC

1 paper

NM_014608.6

p.L307L

c.921A>C

1 paper

NM_014608.6

p.M311T

c.932T>C

1 paper

NM_014608.6

p.Y325*

c.975C>G

1 paper

NM_014608.6

p.Y325*

c.975C>A

1 paper

NM_014608.6

p.K300_Q301Splc

c.901-455T>C

1 paper

NM_014608.6

p.T333M

c.998C>T

1 paper

NM_014608.6

p.T335T

c.1005A>C

1 paper

NM_014608.6

p.Q342H

c.1026G>T

1 paper

NM_014608.6

p.Q342H

c.1026G>C

1 paper

NM_014608.6

p.C346_E347del1

c.1038_1040delTCG