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

Selected Variant

3 papers

NM_001382273.1

p.M409I

c.1227G>A

Surrounding Variants

3 papers

NM_001382273.1

p.M409I

c.1227G>T

3 papers

NM_001382273.1

p.M409I

c.1227G>C

1 paper

NM_001382273.1

p.V415I

c.1243G>A

1 paper

NM_001382273.1

p.D403Y

c.1207G>T

1 paper

NM_001382273.1

p.P402L

c.1205C>T

1 paper

NM_001382273.1

p.E400delFs

c.1200delC

1 paper

NM_001382273.1

p.M393T

c.1178T>C

1 paper

NM_001382273.1

p.Q389*

c.1165C>T

2 papers

NM_001382273.1

p.R382W

c.1144C>T

1 paper

NM_001382273.1

p.Q366Q

c.1098G>A

1 paper

NM_001382273.1

p.C356R

c.1066T>C

6 papers

NM_001382273.1

p.E346K

c.1036G>A