Varaico: Literature-Extracted Genetic Variants

Gene:CDKL1
Variant:p.M1delins

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.M1delins
c.3delinsTTTTAGATCCATATTTTAG
Surrounding Variants
1 paper
NM_004196.7
p.M1delFs
c.2delA
1 paper
NM_004196.7
p.I7_G8insFs
c.21_22insC
2 papers
NM_004196.7
p.G11R
c.31G>C
2 papers
NM_004196.7
p.G11R
c.31G>A
1 paper
NM_004196.7
p.C21_R22insC
c.61_65ins3
2 papers
NM_004196.7
p.K33R
c.98A>G
2 papers
NM_004196.7
p.K34R
c.101A>G
1 paper
NM_004196.7
p.K46N
c.138A>T
1 paper
NM_004196.7
p.K46N
c.138A>C
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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."