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

3 papers

NM_178510.2

p.W253R

c.757T>A

Surrounding Variants

3 papers

NM_178510.2

p.W253R

c.757T>C

1 paper

NM_178510.2

p.S250P

c.748T>C

1 paper

NM_178510.2

p.D262G

c.785A>G

1 paper

NM_178510.2

p.R243Q

c.728G>A

1 paper

NM_178510.2

p.R243delFs

c.728delG

1 paper

NM_178510.2

p.G241D

c.722G>A

1 paper

NM_178510.2

p.K265N

c.795A>C

2 papers

NM_178510.2

p.K265N

c.795A>T

1 paper

NM_178510.2

p.A240G

c.719C>G

19 papers

NM_178510.2

p.A239T

c.715G>A

5 papers

NM_178510.2

p.R237*

c.709C>T

1 paper

NM_178510.2

p.D269Y

c.805G>T