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

1–12 of 196 variants

98 papers

NM_178510.2

p.E713K

c.2137G>A

19 papers

NM_178510.2

p.A239T

c.715G>A

14 papers

NM_178510.2

p.G442R

c.1324G>C

10 papers

NM_178510.2

p.R122H

c.365G>A

10 papers

NM_178510.2

p.H490R

c.1469A>G

8 papers

NM_178510.2

p.G318R

c.952G>A

8 papers

NM_178510.2

p.G318R

c.952G>C

5 papers

NM_178510.2

p.R237*

c.709C>T

4 papers

NM_178510.2

p.D4Y

c.10G>T

4 papers

NM_178510.2

p.T174I

c.521C>T

4 papers

NM_178510.2

p.P596L

c.1787C>T

3 papers

NM_178510.2

p.K51R

c.152A>G