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

1–12 of 262 variants

7 papers

NM_014608.6

p.G820S

c.2458G>A

5 papers

NM_014608.6

p.C179R

c.535T>C

4 papers

NM_014608.6

p.M1insFs

c.2dupT

4 papers

NM_014608.6

p.I476V

c.1426A>G

3 papers

NM_014608.6

p.Y108H

c.322T>C

3 papers

NM_014608.6

p.Y704D

c.2110T>G

3 papers

NM_014608.6

p.P742L

c.2225C>T

2 papers

NM_014608.6

p.S35L

c.104C>T

2 papers

NM_014608.6

p.V304_V305del1

c.912_914delACC

2 papers

NM_014608.6

p.T373M

c.1118C>T

2 papers

NM_014608.6

p.I640M

c.1920T>G

2 papers

NM_014608.6

p.Q701R

c.2102A>G