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

2 papers

NM_014927.5

p.W578*

c.1734G>A

Surrounding Variants

2 papers

NM_014927.5

p.W578*

c.1733G>A

1 paper

NM_014927.5

p.W576R

c.1726T>C

1 paper

NM_014927.5

p.K584_S585insFs

c.1752_1753insA

1 paper

NM_014927.5

p.F596_Y606del0

c.1787_1816del30

1 paper

NM_014927.5

p.R562*

c.1684C>T

2 papers

NM_014927.5

p.W595*

c.1784G>A

2 papers

NM_014927.5

p.W595*

c.1785G>A

1 paper

NM_014927.5

p.V597delFs

c.1789_1790delGT

1 paper

NM_014927.5

p.G553Splc

c.1658-1G>T

2 papers

NM_014927.5

p.G553Splc

c.1657+1G>A

5 papers

NM_014927.5

p.N551fs

c.1651_1652fs

4 papers

NM_014927.5

p.N551_K552delFs

c.1653_1656del4