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.F147S

c.440T>C

Surrounding Variants

5 papers

NM_014927.5

p.T151insFs

c.452_453insA

10 papers

NM_014927.5

p.D152fs

c.454_455fs

5 papers

NM_014927.5

p.Y153_S154delFs

c.457_461del5

6 papers

NM_014927.5

p.Y153fs

c.457_458fs

1 paper

NM_014927.5

p.T156K

c.467C>A

1 paper

NM_014927.5

p.I161L

c.481A>C

1 paper

NM_014927.5

p.I161L

c.481A>T

2 papers

NM_014927.5

p.Q162*

c.484C>T

1 paper

NM_014927.5

p.C164*

c.492C>A

1 paper

NM_014927.5

p.Q173_D174Splc

c.519+1G>A

3 papers

NM_014927.5

p.R118Q

c.353G>A

1 paper

NM_014927.5

p.R118G

c.352C>G