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.S670G

c.2008A>G

Surrounding Variants

1 paper

NM_178510.2

p.L663P

c.1988T>C

1 paper

NM_178510.2

p.L678V

c.2032C>G

1 paper

NM_178510.2

p.Q657*

c.1969C>T

1 paper

NM_178510.2

p.N653S

c.1958A>G

1 paper

NM_178510.2

p.A687T

c.2059G>A

1 paper

NM_178510.2

p.P652R

c.1955C>G

1 paper

NM_178510.2

p.P652S

c.1954C>T

1 paper

NM_178510.2

p.R688C

c.2062C>T

1 paper

NM_178510.2

p.T694K

c.2081C>A

2 papers

NM_178510.2

p.A696T

c.2086G>A

1 paper

NM_178510.2

p.A640A

c.1920G>T

1 paper

NM_178510.2

p.A640T

c.1918G>A