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

1–12 of 193 variants

14 papers

NM_014927.5

p.R712*

c.2134C>T

12 papers

NM_014927.5

p.R729*

c.2185C>T

10 papers

NM_014927.5

p.D152fs

c.454_455fs

7 papers

NM_014927.5

p.Y635Splc

c.1904+1G>A

7 papers

NM_014927.5

p.D682Splc

c.2044+2T>A

7 papers

NM_014927.5

p.W768*

c.2303G>A

7 papers

NM_014927.5

p.W768*

c.2304G>A

6 papers

NM_014927.5

p.Y153fs

c.457_458fs

6 papers

NM_014927.5

p.E675fs

c.2023_2024fs

5 papers

NM_014927.5

p.T151insFs

c.452_453insA

5 papers

NM_014927.5

p.Y153_S154delFs

c.457_461del5

5 papers

NM_014927.5

p.R400*

c.1198C>T