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.Y40C

c.119A>G

Surrounding Variants

1 paper

NM_001382273.1

p.F38F

c.114T>C

1 paper

NM_001382273.1

p.K42N

c.126G>T

1 paper

NM_001382273.1

p.K42N

c.126G>C

1 paper

NM_001382273.1

p.H37Y

c.109C>T

1 paper

NM_001382273.1

p.E44V

c.131A>T

1 paper

NM_001382273.1

p.R34R

c.102C>T

4 papers

NM_001382273.1

p.R34L

c.101G>T

2 papers

NM_001382273.1

p.N31S

c.92A>G

1 paper

NM_001382273.1

p.G50V

c.149G>T

1 paper

NM_001382273.1

p.V17V

c.51G>C

1 paper

NM_001382273.1

p.E12K

c.34G>A

1 paper

NM_001382273.1

p.T7I

c.20C>T