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.K300_Q301Splc

c.900+1224A>G

Surrounding Variants

1 paper

NM_014608.6

p.L292insFs

c.874_875insA

1 paper

NM_014608.6

p.L284_D285delFs

c.852_855del4

1 paper

NM_014608.6

p.K283K

c.849G>A

1 paper

NM_014608.6

p.Y282H

c.844T>C

1 paper

NM_014608.6

p.S277R

c.831T>G

1 paper

NM_014608.6

p.S277R

c.831T>A

1 paper

NM_014608.6

p.S277R

c.829A>C

1 paper

NM_014608.6

p.M274delFs

c.822delC

1 paper

NM_014608.6

p.L273L

c.819G>T

1 paper

NM_014608.6

p.K300_Q301Splc

c.901-455T>C

1 paper

NM_014608.6

p.Q303_V304del2

c.907_911del6

2 papers

NM_014608.6

p.V304_V305del1

c.912_914delACC