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

2 papers

NM_001382273.1

p.R99W

c.295C>T

Surrounding Variants

5 papers

NM_001382273.1

p.R99Q

c.296G>A

2 papers

NM_001382273.1

p.A104T

c.310G>A

1 paper

NM_001382273.1

p.H93Y

c.277C>T

1 paper

NM_001382273.1

p.E111K

c.331G>A

1 paper

NM_001382273.1

p.E111D

c.333G>T

1 paper

NM_001382273.1

p.E111D

c.333G>C

1 paper

NM_001382273.1

p.G112G

c.336G>C

1 paper

NM_001382273.1

p.R84*

c.250C>T

1 paper

NM_001382273.1

p.L126L

c.376C>T

1 paper

NM_001382273.1

p.R127H

c.380G>A

1 paper

NM_001382273.1

p.G135G

c.405T>C

1 paper

NM_001382273.1

p.R141C

c.421C>T