Varaico: Literature-Extracted Genetic Variants

Gene:CLK1
Variant:p.N99D

CLK1

49 papers

RefSeq Summary

This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRN...

Pfam Domains

Pkinaseaa 161–477UCSCProtein kinase domain

Gene Aliases

HGNC Name

CDC like kinase 1

HGNC Previous Name

CDC-like kinase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004071.4
p.N99D
c.295A>G
Surrounding Variants
1 paper
NM_004071.4
p.N99S
c.296A>G
1 paper
NM_001162407.1
p.S143I
c.428G>T
1 paper
NM_004071.4
p.E94fs
c.280_281fs
1 paper
NM_004071.4
p.P86P
c.258T>A
1 paper
NM_004071.4
p.H129Y
c.385C>T
1 paper
NM_004071.4
p.H129N
c.385C>A
1 paper
NM_004071.4
p.H129Q
c.387T>G
1 paper
NM_004071.4
p.H129Q
c.387T>A
1 paper
NM_004071.4
p.S61F
c.182C>T
1 paper
NM_004071.4
p.N47T
c.140A>C
1 paper
NM_004071.4
p.K32N
c.96G>C
1 paper
NM_004071.4
p.R31R
c.93G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."