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

6 papers

NM_014927.5

p.E675fs

c.2023_2024fs

Surrounding Variants

5 papers

NM_014927.5

p.R676fs

c.2026_2027fs

5 papers

NM_014927.5

p.R676delFs

c.2026_2027delAG

5 papers

NM_014927.5

p.E675_R676delFs

c.2024_2027del4

2 papers

NM_014927.5

p.Q681*

c.2041C>T

4 papers

NM_014927.5

p.A669fs

c.2005_2006fs

4 papers

NM_014927.5

p.A669delFs

c.2005delG

7 papers

NM_014927.5

p.D682Splc

c.2044+2T>A

5 papers

NM_014927.5

p.R663fs

c.1987_1988fs

4 papers

NM_014927.5

p.R663delFs

c.1988_1989delGA

1 paper

NM_014927.5

p.N662del1

c.1984_1986delAAC

1 paper

NM_014927.5

p.P711delFs

c.2132delC

14 papers

NM_014927.5

p.R712*

c.2134C>T