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

3 papers

NM_014927.5

p.R118Q

c.353G>A

Surrounding Variants

1 paper

NM_014927.5

p.R118G

c.352C>G

1 paper

NM_014927.5

p.R118*

c.352C>T

1 paper

NM_014927.5

p.I103K

c.308T>A

1 paper

NM_014927.5

p.N101delFs

c.303delT

1 paper

NM_014927.5

p.N101fs

c.301_302fs

1 paper

NM_014927.5

p.Q100*

c.298C>T

1 paper

NM_014927.5

p.A96_K97insFs

c.288_289insA

1 paper

NM_014927.5

p.T87fs

c.259_260fs

1 paper

NM_014927.5

p.T87delFs

c.259delA

2 papers

NM_014927.5

p.T82_E83delFs

c.246_247delAG

2 papers

NM_014927.5

p.L80F

c.240G>C

2 papers

NM_014927.5

p.L80F

c.240G>T