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.D724Y

c.2170G>T

Surrounding Variants

2 papers

NM_014608.6

p.D724H

c.2170G>C

1 paper

NM_014608.6

p.D724G

c.2171A>G

1 paper

NM_014608.6

p.K725E

c.2173A>G

1 paper

NM_014608.6

p.L727*

c.2180T>G

1 paper

NM_014608.6

p.R728Q

c.2183G>A

1 paper

NM_014608.6

p.S720Splc

c.2160-4C>G

1 paper

NM_014608.6

p.Q734delFs

c.2201delT

3 papers

NM_014608.6

p.P742L

c.2225C>T

1 paper

NM_014608.6

p.R745_Y746insAC

c.2233_2237ins6

1 paper

NM_014608.6

p.V755G

c.2264T>G

1 paper

NM_014608.6

p.S720Splc

c.2159+2T>G

1 paper

NM_014608.6

p.G719E

c.2156G>A