Varaico: Literature-Extracted Genetic Variants

Gene:CRIPT
Variant:p.K5E

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.K5E
c.13A>G
Surrounding Variants
3 papers
NM_014171.6
p.C3Y
c.8G>A
2 papers
NM_014171.6
p.C3fs
c.7_8fs
2 papers
NM_014171.6
p.C3delFs
c.7_8delTG
2 papers
NM_014171.6
p.E7_K8del2
c.19_23del6
1 paper
NM_014171.6
p.T18A
c.52A>G
1 paper
NM_014171.6
p.T27T
c.81A>G
1 paper
NM_014171.6
p.G30A
c.89G>C
1 paper
NM_014171.6
p.K44delFs
c.132delA
6 papers
NM_014171.6
p.A45insFs
c.133_134insGG
5 papers
NM_014171.6
p.A45fs
c.133_134fs
1 paper
NM_014171.6
p.R46Splc
c.138-116A>G
8 papers
NM_014171.6
p.F47delFs
c.141delT
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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."