Varaico: Literature-Extracted Genetic Variants

PASK

152 papers

RefSeq Summary

This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation ...

Pfam Domains

PAS_9aa 131–233UCSCPAS domain

PAS_9aa 345–402UCSCPAS domain

Pkinaseaa 999–1251UCSCProtein kinase domain

Gene Aliases

HGNC Name

PAS domain containing serine/threonine kinase

HGNC Alias Symbols

PASKIN; KIAA0135; STK37

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015148.4

p.P126delFs

c.377_378delAG

Surrounding Variants

1 paper

NM_015148.4

p.V127M

c.379G>A

1 paper

NM_015148.4

p.T136A

c.406A>G

1 paper

NM_015148.4

p.G117E

c.350G>A

1 paper

NM_015148.4

p.A139P

c.415G>C

1 paper

NM_015148.4

p.C128_E143del16

c.382_428del48

1 paper

NM_015148.4

p.S109S

c.327C>A

1 paper

NM_015148.4

p.E100V

c.299A>T

2 papers

NM_015148.4

p.T96M

c.287C>T

1 paper

NM_015148.4

p.P93delFs

c.278delG

1 paper

NM_015148.4

p.C83S

c.247T>A

1 paper

NM_015148.4

p.N81K

c.243T>A

1 paper

NM_015148.4

p.E66_R68delFs

c.198_204del7