Varaico: Literature-Extracted Genetic Variants

Gene:CNKSR2
Variant:p.Q769H

CNKSR2

124 papers

RefSeq Summary

This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and...

Pfam Domains

SAM_1aa 9–73UCSCSAM domain (Sterile alpha motif)
CRIC_ras_sigaa 84–176UCSCConnector enhancer of kinase suppressor of ras
PDZaa 216–294UCSCPDZ domain
CNK2_3_domaa 290–388UCSCConnector enhancer of kinase suppressor of ras 2/3 domain
PHaa 492–590UCSCPH domain

Gene Aliases

HGNC Name

connector enhancer of kinase suppressor of Ras 2

HGNC Alias Symbols

KIAA0902; CNK2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014927.5
p.Q769H
c.2307G>C
Surrounding Variants
1 paper
NM_014927.5
p.Q769H
c.2307G>T
1 paper
NM_014927.5
p.Q769*
c.2305C>T
7 papers
NM_014927.5
p.W768*
c.2304G>A
7 papers
NM_014927.5
p.W768*
c.2303G>A
1 paper
NM_014927.5
p.S767F
c.2300C>T
1 paper
NM_014927.5
p.S779*
c.2336C>A
1 paper
NM_014927.5
p.S779*
c.2336C>G
1 paper
NM_014927.5
p.H782R
c.2345A>G
5 papers
NM_014927.5
p.Y783*
c.2349T>A
5 papers
NM_014927.5
p.Y783*
c.2349T>G
1 paper
NM_014927.5
p.E790K
c.2368G>A
1 paper
NM_014927.5
p.S792P
c.2374T>C
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