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.S294R

c.880A>C

Surrounding Variants

1 paper

NM_178510.2

p.S294R

c.882T>A

1 paper

NM_178510.2

p.S294R

c.882T>G

1 paper

NM_178510.2

p.R295L

c.884G>T

2 papers

NM_178510.2

p.E284K

c.850G>A

1 paper

NM_178510.2

p.I283F

c.847A>T

1 paper

NM_178510.2

p.R306G

c.916A>G

1 paper

NM_178510.2

p.D280E

c.840C>A

1 paper

NM_178510.2

p.D280delFs

c.839delA

1 paper

NM_178510.2

p.C310W

c.930C>G

1 paper

NM_178510.2

p.S313*

c.938C>A

1 paper

NM_178510.2

p.L314M

c.940C>A

1 paper

NM_178510.2

p.L314R

c.941T>G