Varaico: Literature-Extracted Genetic Variants

ANKK1

272 papers

RefSeq Summary

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID...

Pfam Domains

PK_Tyr_Ser-Thraa 25–284UCSCProtein tyrosine and serine/threonine kinase

Ank_2aa 337–425UCSCAnkyrin repeats (3 copies)

Ank_2aa 406–491UCSCAnkyrin repeats (3 copies)

Ank_2aa 483–557UCSCAnkyrin repeats (3 copies)

Ank_2aa 531–622UCSCAnkyrin repeats (3 copies)

Ank_2aa 615–689UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat and kinase domain containing 1

HGNC Alias Symbol

X-kinase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_178510.2

p.R185Q

c.554G>A

Surrounding Variants

1 paper

NM_178510.2

p.L188F

c.562C>T

1 paper

NM_178510.2

p.L188L

c.564C>T

1 paper

NM_178510.2

p.Q177*

c.529C>T

1 paper

NM_178510.2

p.R175Q

c.524G>A

4 papers

NM_178510.2

p.T174I

c.521C>T

1 paper

NM_178510.2

p.M170V

c.508A>G

1 paper

NM_178510.2

p.K168*

c.502A>T

3 papers

NM_178510.2

p.L166R

c.497T>G

1 paper

NM_178510.2

p.D208Y

c.622G>T

1 paper

NM_178510.2

p.S162insFs

c.485_486insC

3 papers

NM_178510.2

p.K160_I161Splc

c.481-2A>T

1 paper

NM_178510.2

p.S211Splc

c.633-1G>T