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

3 papers

NM_014608.6

p.Y108H

c.322T>C

Surrounding Variants

1 paper

NM_014608.6

p.E106K

c.316G>A

1 paper

NM_014608.6

p.R104T

c.311G>C

1 paper

NM_014608.6

p.N103_R104ins4

c.307_311ins12

1 paper

NM_014608.6

p.Q101_P102delFs

c.303_304delGC

1 paper

NM_014608.6

p.Q101R

c.302A>G

1 paper

NM_014608.6

p.L115R

c.344T>G

1 paper

NM_014608.6

p.P117P

c.351T>A

1 paper

NM_014608.6

p.K121E

c.361A>G

1 paper

NM_014608.6

p.Y127_F128delFs

c.379_383del5

1 paper

NM_014608.6

p.E78A

c.233A>C

1 paper

NM_014608.6

p.G76G

c.228C>A

1 paper

NM_014608.6

p.E75V

c.224A>T