Varaico: Literature-Extracted Genetic Variants

Gene:CYFIP2
Variant:p.K501*

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.K501*
c.1501A>T
Surrounding Variants
1 paper
NM_001037333.3
p.R500Q
c.1499G>A
1 paper
NM_001037333.3
p.K501K
c.1503G>A
1 paper
NM_001037333.3
p.Q497fs
c.1489_1490fs
1 paper
NM_001037333.3
p.R496Q
c.1487G>A
1 paper
NM_001037333.3
p.R496delFs
c.1488delG
1 paper
NM_001037333.3
p.P494Fs
c.1482delinsGCCAGGFs
1 paper
NM_001037333.3
p.R492H
c.1475G>A
2 papers
NM_001037333.3
p.T490M
c.1469C>T
1 paper
NM_001037333.3
p.A481V
c.1442C>T
4 papers
NM_001037333.3
p.E468D
c.1404G>C
4 papers
NM_001037333.3
p.E468D
c.1404G>T
3 papers
NM_001037333.3
p.M456V
c.1366A>G
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