Varaico: Literature-Extracted Genetic Variants

Gene:CRIPT
Variant:p.S100delFs

CRIPT

25 papers

RefSeq Summary

This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short s...

Pfam Domains

Criptaa 11–100UCSCMicrotubule-associated protein CRIPT

Gene Aliases

HGNC Name

CXXC repeat containing interactor of PDZ3 domain

HGNC Alias Symbol

HSPC139

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014171.6
p.S100delFs
c.300delT
Surrounding Variants
2 papers
NM_014171.6
p.V101A
c.302T>C
1 paper
NM_014171.6
p.K88E
c.262A>G
1 paper
NM_014171.6
p.G81Splc
c.242-2A>G
1 paper
NM_014171.6
p.C76Y
c.227G>A
1 paper
NM_014171.6
p.V65A
c.194T>C
1 paper
NM_014171.6
p.S64F
c.191C>T
7 papers
NM_014171.6
p.F47fs
c.139_140fs
8 papers
NM_014171.6
p.F47delFs
c.141delT
1 paper
NM_014171.6
p.R46Splc
c.138-116A>G
5 papers
NM_014171.6
p.A45fs
c.133_134fs
6 papers
NM_014171.6
p.A45insFs
c.133_134insGG
1 paper
NM_014171.6
p.K44delFs
c.132delA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."