Varaico: Literature-Extracted Genetic Variants

Gene:CDKL2
Variant:p.Q340_D341Splc

CDKL2

114 papers

RefSeq Summary

This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul ...

Pfam Domains

Pkinaseaa 4–287UCSCProtein kinase domain

Gene Aliases

HGNC Name

cyclin dependent kinase like 2

HGNC Alias Symbols

P56; KKIAMRE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001330724.2
p.Q340_D341Splc
c.1021-1G>C
Surrounding Variants
1 paper
NM_001330724.2
p.Y351_F354del0
c.1052_1060del9
1 paper
NM_001330724.2
p.S381G
c.1141A>G
1 paper
NM_001330724.2
p.T383K
c.1148C>A
1 paper
NM_001330724.2
p.P390L
c.1169C>T
1 paper
NM_001330724.2
p.L394_K395del2
c.1180_1184del6
1 paper
NM_001330724.2
p.V410M
c.1228G>A
1 paper
NM_001330724.2
p.M430T
c.1289T>C
1 paper
NM_001330724.2
p.E433E
c.1299G>A
1 paper
NM_001330724.2
p.Q340_D341Splc
c.1020+17C>T
1 paper
NM_001330724.2
p.Q340H
c.1020G>T
1 paper
NM_001330724.2
p.Q340H
c.1020G>C
1 paper
NM_001330724.2
p.L337P
c.1010T>C
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