Varaico: Literature-Extracted Genetic Variants

Gene:CNKSR1
Variant:p.Q75R

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.Q75R
c.224A>G
Surrounding Variants
1 paper
NM_006314.3
p.T76fs
c.226_227fs
3 papers
NM_006314.3
p.T76I
c.227C>T
1 paper
NM_006314.3
p.T76_E77delFs
c.227_230del4
1 paper
NM_006314.3
p.S72P
c.214T>C
1 paper
NM_006314.3
p.L79P
c.236T>C
1 paper
NM_006314.3
p.G85delFs
c.254delG
1 paper
NM_006314.3
p.G85fs
c.253_254fs
1 paper
NM_006314.3
p.A89V
c.266C>T
1 paper
NM_006314.3
p.D103N
c.307G>A
1 paper
NM_006314.3
p.V111D
c.332T>A
1 paper
NM_006314.3
p.V111G
c.332T>G
1 paper
NM_006314.3
p.C113F
c.338G>T
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