Varaico: Literature-Extracted Genetic Variants

Gene:CYFIP2
Variant:p.Q342L

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
2 papers
NM_001037333.3
p.Q342L
c.1025A>T
Surrounding Variants
1 paper
NM_001037333.3
p.M349K
c.1046T>A
1 paper
NM_001037333.3
p.E362Q
c.1084G>C
1 paper
NM_001037333.3
p.R365H
c.1094G>A
1 paper
NM_001037333.3
p.E370_V371Splc
c.1110+41G>C
1 paper
NM_001037333.3
p.K331Splc
c.993-132G>A
4 papers
NM_001037333.3
p.K320E
c.958A>G
2 papers
NM_001037333.3
p.M311T
c.932T>C
1 paper
NM_001037333.3
p.V372V
c.1116G>C
1 paper
NM_001037333.3
p.S375P
c.1123T>C
1 paper
NM_001037333.3
p.E388Q
c.1162G>C
1 paper
NM_001037333.3
p.F390F
c.1170C>T
1 paper
NM_001037333.3
p.G396fs
c.1186_1187fs
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