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.L27L

c.79C>T

Surrounding Variants

1 paper

NM_178510.2

p.E22D

c.66G>C

1 paper

NM_178510.2

p.E22D

c.66G>T

1 paper

NM_178510.2

p.G32_Q35delFs

c.94_104del11

1 paper

NM_178510.2

p.G32A

c.95G>C

1 paper

NM_178510.2

p.R18C

c.52C>T

1 paper

NM_178510.2

p.V15V

c.45C>T

1 paper

NM_178510.2

p.A39E

c.116C>A

1 paper

NM_178510.2

p.A39A

c.117G>A

1 paper

NM_178510.2

p.R40W

c.118C>T

1 paper

NM_178510.2

p.P14delFs

c.42delC

1 paper

NM_178510.2

p.R9_L10insFs

c.27_28insAT

1 paper

NM_178510.2

p.R9W

c.25C>T