Varaico: Literature-Extracted Genetic Variants

Gene:CYFIP2
Variant:p.K320E

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
4 papers
NM_001037333.3
p.K320E
c.958A>G
Surrounding Variants
2 papers
NM_001037333.3
p.M311T
c.932T>C
1 paper
NM_001037333.3
p.K331Splc
c.993-132G>A
2 papers
NM_001037333.3
p.Q342L
c.1025A>T
1 paper
NM_001037333.3
p.M349K
c.1046T>A
2 papers
NM_001037333.3
p.K294E
c.880A>G
1 paper
NM_001037333.3
p.E362Q
c.1084G>C
1 paper
NM_001037333.3
p.N291fs
c.871_872fs
1 paper
NM_001037333.3
p.R365H
c.1094G>A
1 paper
NM_001037333.3
p.N291delFs
c.872delA
1 paper
NM_001037333.3
p.R289I
c.866G>T
1 paper
NM_001037333.3
p.I281_Y282insA
c.841_845ins3
2 papers
NM_001037333.3
p.N280_I281insT
c.838_842ins3
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