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

2 papers

NM_014608.6

p.T373M

c.1118C>T

Surrounding Variants

1 paper

NM_014608.6

p.E379_T383del0

c.1136_1147del12

1 paper

NM_014608.6

p.E379_T383del5

c.1135_1148del15

1 paper

NM_014608.6

p.L398L

c.1194G>A

1 paper

NM_014608.6

p.E370_V371Splc

c.1111-170C>T

1 paper

NM_014608.6

p.V411_Y412Splc

c.1233+152C>T

1 paper

NM_014608.6

p.V411_Y412Splc

c.1233+243T>C

1 paper

NM_014608.6

p.E370_V371Splc

c.1111-624T>A

1 paper

NM_014608.6

p.V411_Y412Splc

c.1233+741A>G

1 paper

NM_014608.6

p.E370_V371Splc

c.1111-1141T>C

1 paper

NM_014608.6

p.E370_V371Splc

c.1111-1541A>C

1 paper

NM_014608.6

p.V411_Y412Splc

c.1234-335G>A

1 paper

NM_014608.6

p.E370_V371Splc

c.1111-1724T>C