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

5 papers

NM_014608.6

p.C179R

c.535T>C

Surrounding Variants

1 paper

NM_014608.6

p.S180I

c.539G>T

1 paper

NM_014608.6

p.S180R

c.540T>A

1 paper

NM_014608.6

p.D184N

c.550G>A

1 paper

NM_014608.6

p.M167I

c.501G>A

1 paper

NM_014608.6

p.N166S

c.497A>G

1 paper

NM_014608.6

p.A156V

c.467C>T

1 paper

NM_014608.6

p.A156T

c.466G>A

1 paper

NM_014608.6

p.E134D

c.402G>T

1 paper

NM_014608.6

p.E134D

c.402G>C

1 paper

NM_014608.6

p.E134E

c.402G>A

1 paper

NM_014608.6

p.R130S

c.390A>T

1 paper

NM_014608.6

p.R190Splc

c.569+677G>A