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.C411_A412insGC

c.1231_1235ins6

Surrounding Variants

1 paper

NM_178510.2

p.D405N

c.1213G>A

1 paper

NM_178510.2

p.Q404Q

c.1212G>A

1 paper

NM_178510.2

p.D420Y

c.1258G>T

1 paper

NM_178510.2

p.R423*

c.1267C>T

1 paper

NM_178510.2

p.G395G

c.1185A>G

1 paper

NM_178510.2

p.G428D

c.1283G>A

1 paper

NM_178510.2

p.A393T

c.1177G>A

1 paper

NM_178510.2

p.T392M

c.1175C>T

1 paper

NM_178510.2

p.A430T

c.1288G>A

1 paper

NM_178510.2

p.H433P

c.1298A>C

14 papers

NM_178510.2

p.G442R

c.1324G>C

2 papers

NM_178510.2

p.G442C

c.1324G>T