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

7 papers

NM_014608.6

p.G820S

c.2458G>A

Surrounding Variants

1 paper

NM_014608.6

p.G820D

c.2459G>A

2 papers

NM_014608.6

p.R814Q

c.2441G>A

1 paper

NM_014608.6

p.V832M

c.2494G>A

1 paper

NM_014608.6

p.R806H

c.2417G>A

1 paper

NM_014608.6

p.Y836Y

c.2508C>T

1 paper

NM_014608.6

p.E797A

c.2390A>C

1 paper

NM_014608.6

p.F844S

c.2531T>C

1 paper

NM_014608.6

p.W845*

c.2534G>A

1 paper

NM_014608.6

p.W845*

c.2535G>A

1 paper

NM_014608.6

p.L852_Y855del4

c.2554_2564del12

1 paper

NM_014608.6

p.V796_E797Splc

c.2389-869C>T

1 paper

NM_014608.6

p.R863Splc

c.2588+2524T>C