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.M69_N70Splc

c.207+43C>A

Surrounding Variants

1 paper

NM_014608.6

p.R58K

c.173G>A

1 paper

NM_014608.6

p.F42L

c.126C>G

1 paper

NM_014608.6

p.F42L

c.126C>A

1 paper

NM_014608.6

p.F42L

c.124T>C

1 paper

NM_014608.6

p.M69_N70Splc

c.207+242A>G

2 papers

NM_014608.6

p.S35L

c.104C>T

1 paper

NM_014608.6

p.S35insFs

c.103_104ins4

1 paper

NM_014608.6

p.E30K

c.88G>A

1 paper

NM_014608.6

p.P27R

c.80C>G

1 paper

NM_014608.6

p.D24V

c.71A>T

1 paper

NM_014608.6

p.P23P

c.69C>T

1 paper

NM_014608.6

p.L17insFs

c.50dupT