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.T433fs

c.1297_1298fs

Surrounding Variants

1 paper

NM_014927.5

p.P432insFs

c.1295dupC

2 papers

NM_014927.5

p.G435Splc

c.1303+1G>C

5 papers

NM_014927.5

p.R428*

c.1282C>T

2 papers

NM_014927.5

p.Q425*

c.1273C>T

1 paper

NM_014927.5

p.L412*

c.1235T>A

1 paper

NM_014927.5

p.L412*

c.1235T>G

1 paper

NM_014927.5

p.E408D

c.1224A>C

1 paper

NM_014927.5

p.E408D

c.1224A>T

5 papers

NM_014927.5

p.R400*

c.1198C>T

1 paper

NM_014927.5

p.D396H

c.1186G>C

1 paper

NM_014927.5

p.G368*

c.1102G>T

1 paper

NM_014927.5

p.R364Splc

c.1092-1G>A