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

98 papers

NM_178510.2

p.E713K

c.2137G>A

Surrounding Variants

1 paper

NM_178510.2

p.G715A

c.2144G>C

1 paper

NM_178510.2

p.A716T

c.2146G>A

1 paper

NM_178510.2

p.Q717L

c.2150A>T

1 paper

NM_178510.2

p.V720I

c.2158G>A

1 paper

NM_178510.2

p.T705I

c.2114C>T

2 papers

NM_178510.2

p.A696T

c.2086G>A

1 paper

NM_178510.2

p.T694K

c.2081C>A

1 paper

NM_178510.2

p.R734C

c.2200C>T

3 papers

NM_178510.2

p.R736*

c.2206C>T

1 paper

NM_178510.2

p.R736Q

c.2207G>A

1 paper

NM_178510.2

p.R736L

c.2207G>T

1 paper

NM_178510.2

p.R688C

c.2062C>T