Varaico: Literature-Extracted Genetic Variants

Gene:CDKL1
Variant:p.K342N

CDKL1

25 papers

RefSeq Summary

This gene product is a member of a large family of CDC2-related serine/threonine protein kinases that accumulates primarily in the nucleus. [provided by RefSeq, Nov 2018].

Pfam Domains

Pkinaseaa 4–287UCSCProtein kinase domain

Gene Aliases

HGNC Name

cyclin dependent kinase like 1

HGNC Alias Symbol

KKIALRE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004196.7
p.K342N
c.1026G>C
Surrounding Variants
1 paper
NM_004196.7
p.K342N
c.1026G>T
1 paper
NM_004196.7
p.F317L
c.951T>G
1 paper
NM_004196.7
p.F317L
c.951T>A
1 paper
NM_004196.7
p.F317L
c.949T>C
1 paper
NM_004196.7
p.N301D
c.901A>G
1 paper
NM_004196.7
p.N289insFs
c.865_866insA
1 paper
NM_004196.7
p.Q280_H283delFs
c.838_847del10
1 paper
NM_004196.7
p.F229_N232del4
c.685_695del12
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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."