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.P711delFs

c.2132delC

Surrounding Variants

14 papers

NM_014927.5

p.R712*

c.2134C>T

1 paper

NM_014927.5

p.R712Q

c.2135G>A

5 papers

NM_014927.5

p.S715_M716Splc

c.2145+1G>A

1 paper

NM_014927.5

p.S728delFs

c.2184delC

12 papers

NM_014927.5

p.R729*

c.2185C>T

1 paper

NM_014927.5

p.E744delFs

c.2230delG

1 paper

NM_014927.5

p.E744fs

c.2230_2231fs

1 paper

NM_014927.5

p.S767F

c.2300C>T

7 papers

NM_014927.5

p.W768*

c.2303G>A

7 papers

NM_014927.5

p.W768*

c.2304G>A

1 paper

NM_014927.5

p.Q769*

c.2305C>T

1 paper

NM_014927.5

p.Q769H

c.2307G>C