Varaico: Literature-Extracted Genetic Variants

Gene:CYFIP2
Variant:p.P257insFs

CYFIP2

172 papers

Pfam Domains

CYRIA-B_Rac1-bdaa 45–277UCSCCYRIA/CYRIB Rac1 binding domain
FragX_IPaa 315–1198UCSCCytoplasmic Fragile-X interacting family
FragX_IPaa 341–559UCSCCytoplasmic Fragile-X interacting family

Gene Aliases

HGNC Name

cytoplasmic FMR1 interacting protein 2

HGNC Alias Symbol

PIR121

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001037333.3
p.P257insFs
c.771dupC
Surrounding Variants
2 papers
NM_001037333.3
p.S258fs
c.772_773fs
1 paper
NM_001037333.3
p.K265delFs
c.794delA
1 paper
NM_001037333.3
p.A239T
c.715G>A
1 paper
NM_001037333.3
p.L238R
c.713T>G
1 paper
NM_001037333.3
p.Q227R
c.680A>G
1 paper
NM_001037333.3
p.Q222E
c.664C>G
1 paper
NM_001037333.3
p.A199A
c.597A>G
1 paper
NM_001037333.3
p.R196W
c.586C>T
1 paper
NM_001037333.3
p.A191S
c.571G>T
1 paper
NM_001037333.3
p.L273L
c.817C>T
5 papers
NM_001037333.3
p.S279_N280insC
c.835_839ins3
2 papers
NM_001037333.3
p.N280_I281insT
c.838_842ins3
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