Varaico: Literature-Extracted Genetic Variants

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.V834L

c.2500G>T

Surrounding Variants

1 paper

NM_014927.5

p.G840G

c.2520C>T

2 papers

NM_001330772.2

p.A748P

c.2242G>C

NM_014927.5

p.A827P

c.2479G>C

1 paper

NM_014927.5

p.S844R

c.2530A>C

1 paper

NM_014927.5

p.S844R

c.2532T>A

1 paper

NM_014927.5

p.S844R

c.2532T>G

5 papers

NM_014927.5

p.R849*

c.2545C>T

1 paper

NM_014927.5

p.R849P

c.2546G>C

1 paper

NM_014927.5

p.T809_L810del2

c.2425_2429del6

1 paper

NM_014927.5

p.R806Q

c.2417G>A

1 paper

NM_014927.5

p.I800del1

c.2398_2399delATC

1 paper

NM_014927.5

p.S792P

c.2374T>C

1 paper

NM_014927.5

p.E877V

c.2630A>T