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

7 papers

NM_014927.5

p.Y635Splc

c.1904+1G>A

Surrounding Variants

1 paper

NM_014927.5

p.K634insFs

c.1902dupA

1 paper

NM_014927.5

p.R632H

c.1895G>A

1 paper

NM_014927.5

p.E615_G616del1

c.1844_1846delAAG

4 papers

NM_014927.5

p.Y635Splc

c.1905-2A>G

1 paper

NM_014927.5

p.A639V

c.1916C>T

1 paper

NM_014927.5

p.E652D

c.1956A>C

1 paper

NM_014927.5

p.E652D

c.1956A>T

1 paper

NM_014927.5

p.D656V

c.1967A>T

1 paper

NM_014927.5

p.R659Splc

c.1976+2T>C

1 paper

NM_014927.5

p.V597delFs

c.1789_1790delGT

2 papers

NM_014927.5

p.W595*

c.1785G>A

2 papers

NM_014927.5

p.W595*

c.1784G>A