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.E453_V454Splc

c.1360-1057C>T

Surrounding Variants

1 paper

NM_014608.6

p.E453_V454Splc

c.1360-1294T>G

1 paper

NM_014608.6

p.E453_V454Splc

c.1360-629G>T

1 paper

NM_014608.6

p.E453_V454Splc

c.1360-1576C>T

1 paper

NM_014608.6

p.E453_V454Splc

c.1360-1757G>A

1 paper

NM_014608.6

p.E453_V454Splc

c.1360-325C>T

1 paper

NM_014608.6

p.E453_V454Splc

c.1360-1865G>T

1 paper

NM_014608.6

p.A456P

c.1366G>C

1 paper

NM_014608.6

p.M468I

c.1404G>T

1 paper

NM_014608.6

p.M468I

c.1404G>C

1 paper

NM_014608.6

p.M468I

c.1404G>A

1 paper

NM_014608.6

p.F472L

c.1416C>G

1 paper

NM_014608.6

p.F472L

c.1416C>A