Varaico: Literature-Extracted Genetic Variants

Gene:CNKSR1
Variant:p.Q579K

CNKSR1

98 papers

RefSeq Summary

This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts ...

Pfam Domains

CRIC_ras_sigaa 78–162UCSCConnector enhancer of kinase suppressor of ras
PHaa 139–237UCSCPH domain

Gene Aliases

HGNC Name

connector enhancer of kinase suppressor of Ras 1

HGNC Alias Symbols

CNK1; CNK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006314.3
p.Q579K
c.1735C>A
Surrounding Variants
1 paper
NM_006314.3
p.V582M
c.1744G>A
1 paper
NM_006314.3
p.T592I
c.1775C>T
1 paper
NM_006314.3
p.D564Splc
c.1691-2A>G
1 paper
NM_006314.3
p.R597W
c.1789C>T
1 paper
NM_006314.3
p.S598R
c.1792A>C
1 paper
NM_006314.3
p.S598R
c.1794C>A
1 paper
NM_006314.3
p.S598R
c.1794C>G
1 paper
NM_006314.3
p.R612G
c.1834C>G
1 paper
NM_006314.3
p.R612*
c.1834C>T
1 paper
NM_006314.3
p.H614R
c.1841A>G
3 papers
NM_006314.3
p.R615H
c.1844G>A
1 paper
NM_006314.3
p.R617W
c.1849C>T
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