Varaico: Literature-Extracted Genetic Variants

Gene:CNKSR1
Variant:p.P347L

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.P347L
c.1040C>T
Surrounding Variants
1 paper
NM_006314.3
p.P346P
c.1038C>T
1 paper
NM_006314.3
p.E348G
c.1043A>G
1 paper
NM_006314.3
p.P346S
c.1036C>T
1 paper
NM_006314.3
p.P350T
c.1048C>A
2 papers
NM_006314.3
p.P350Q
c.1049C>A
1 paper
NM_006314.3
p.P344L
c.1031C>T
1 paper
NM_006314.3
p.L343L
c.1029G>A
1 paper
NM_006314.3
p.A336V
c.1007C>T
1 paper
NM_006314.3
p.K369_S370Splc
c.1107+1G>T
1 paper
NM_006314.3
p.K369_S370Splc
c.1108-1G>C
1 paper
NM_006314.3
p.D334Splc
c.1000+3A>T
1 paper
NM_006314.3
p.T333T
c.999A>G
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