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.S631C

c.1892C>G

Surrounding Variants

1 paper

NM_015148.4

p.A627T

c.1879G>A

1 paper

NM_015148.4

p.R622Q

c.1865G>A

1 paper

NM_015148.4

p.W647delFs

c.1941delC

1 paper

NM_015148.4

p.L648P

c.1943T>C

2 papers

NM_015148.4

p.R654*

c.1960C>T

1 paper

NM_015148.4

p.S605fs

c.1813_1814fs

2 papers

NM_015148.4

p.G604fs

c.1810_1811fs

1 paper

NM_015148.4

p.G604delFs

c.1811delC

2 papers

NM_015148.4

p.A597insFs

c.1790dupC

1 paper

NM_015148.4

p.A597fs

c.1789_1790fs

2 papers

NM_015148.4

p.L669S

c.2006T>C

1 paper

NM_015148.4

p.S670R

c.2010C>A