Varaico: Literature-Extracted Genetic Variants

Gene:CNKSR1
Variant:p.E523K

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
1 paper
NM_006314.3
p.E523K
c.1567G>A
Surrounding Variants
1 paper
NM_006314.3
p.P520S
c.1558C>T
1 paper
NM_006314.3
p.S528L
c.1583C>T
1 paper
NM_006314.3
p.Y512delFs
c.1535delA
1 paper
NM_006314.3
p.S530_P531Splc
c.1591-3C>G
1 paper
NM_006314.3
p.P550T
c.1648C>A
1 paper
NM_006314.3
p.E508K
c.1522G>A
2 papers
NM_006314.3
p.R507Q
c.1520G>A
1 paper
NM_006314.3
p.P506S
c.1516C>T
1 paper
NM_006314.3
p.P505Q
c.1514C>A
1 paper
NM_006314.3
p.P505R
c.1514C>G
1 paper
NM_006314.3
p.P505fs
c.1513_1514fs
1 paper
NM_006314.3
p.P505S
c.1513C>T
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