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.E235E

c.705A>G

Surrounding Variants

1 paper

NM_014608.6

p.L237F

c.709C>T

1 paper

NM_014608.6

p.L238Q

c.713T>A

1 paper

NM_014608.6

p.A239T

c.715G>A

1 paper

NM_014608.6

p.Y249insFs

c.745_746insAC

1 paper

NM_014608.6

p.Y249fs

c.745_746fs

1 paper

NM_014608.6

p.M253T

c.758T>C

1 paper

NM_014608.6

p.T256T

c.768G>C

1 paper

NM_014608.6

p.Q222E

c.664C>G

1 paper

NM_014608.6

p.N209K

c.627T>G

1 paper

NM_014608.6

p.Q208L

c.623A>T

1 paper

NM_014608.6

p.A191S

c.571G>T

1 paper

NM_014608.6

p.R190S

c.570G>T