Varaico: Literature-Extracted Genetic Variants

TNK2

162 papers

RefSeq Summary

This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is ...

Pfam Domains

SAM_TNKaa 10–65UCSCSAM domain-like

PK_Tyr_Ser-Thraa 126–385UCSCProtein tyrosine and serine/threonine kinase

SH3_9aa 395–444UCSCVariant SH3 domain

GTPase_bindingaa 449–514UCSCGTPase binding

Inhibitor_Mig-6aa 774–840UCSCEGFR receptor inhibitor Mig-6

Gene Aliases

HGNC Name

tyrosine kinase non receptor 2

HGNC Alias Symbols

p21cdc42Hs; ACK; ACK1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 190 variants

6 papers

NM_001382273.1

p.K158R

c.473A>G

6 papers

NM_001382273.1

p.E346K

c.1036G>A

5 papers

NM_001382273.1

p.R99Q

c.296G>A

4 papers

NM_001382273.1

p.R34L

c.101G>T

3 papers

NM_001382273.1

p.A156T

c.466G>A

3 papers

NM_001382273.1

p.K161Q

c.481A>C

3 papers

NM_001382273.1

p.M409I

c.1227G>T

3 papers

NM_001382273.1

p.M409I

c.1227G>C

3 papers

NM_001382273.1

p.M409I

c.1227G>A

2 papers

NM_001382273.1

p.N31S

c.92A>G

2 papers

NM_001382273.1

p.Y40C

c.119A>G

2 papers

NM_001382273.1

p.R99W

c.295C>T