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.E370_V371Splc

c.1110+2003T>G

Surrounding Variants

1 paper

NM_014608.6

p.E370_V371Splc

c.1110+1972C>T

1 paper

NM_014608.6

p.E370_V371Splc

c.1110+1822T>G

1 paper

NM_014608.6

p.E370_V371Splc

c.1111-1781C>T

1 paper

NM_014608.6

p.E370_V371Splc

c.1111-1724T>C

1 paper

NM_014608.6

p.E370_V371Splc

c.1111-1541A>C

1 paper

NM_014608.6

p.E370_V371Splc

c.1111-1141T>C

1 paper

NM_014608.6

p.E370_V371Splc

c.1111-624T>A

1 paper

NM_014608.6

p.E370_V371Splc

c.1110+247G>C

1 paper

NM_014608.6

p.E370_V371Splc

c.1111-170C>T

1 paper

NM_014608.6

p.S361L

c.1082C>T

1 paper

NM_014608.6

p.R353H

c.1058G>A

1 paper

NM_014608.6

p.C346_E347del1

c.1038_1040delTCG