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

1 paper

NM_178510.2

p.R570G

c.1708A>G

Surrounding Variants

1 paper

NM_178510.2

p.A569S

c.1705G>T

1 paper

NM_178510.2

p.K572E

c.1714A>G

1 paper

NM_178510.2

p.T566I

c.1697C>T

1 paper

NM_178510.2

p.P563Q

c.1688C>A

1 paper

NM_178510.2

p.Y561Y

c.1683C>T

1 paper

NM_178510.2

p.G560S

c.1678G>A

1 paper

NM_178510.2

p.D557E

c.1671C>A

1 paper

NM_178510.2

p.D557E

c.1671C>G

1 paper

NM_178510.2

p.E587*

c.1759G>T

1 paper

NM_178510.2

p.A551E

c.1652C>A

2 papers

NM_178510.2

p.T595I

c.1784C>T

4 papers

NM_178510.2

p.P596L

c.1787C>T