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

3 papers

NM_015148.4

p.Q468insFs

c.1403dupA

Surrounding Variants

1 paper

NM_015148.4

p.Q468fs

c.1402_1403fs

1 paper

NM_015148.4

p.T469fs

c.1405_1406fs

1 paper

NM_015148.4

p.T467T

c.1401T>G

1 paper

NM_015148.4

p.T467S

c.1400C>G

1 paper

NM_015148.4

p.T467S

c.1399A>T

1 paper

NM_015148.4

p.Q476E

c.1426C>G

1 paper

NM_015148.4

p.R455delFs

c.1363delG

1 paper

NM_015148.4

p.R455fs

c.1363_1364fs

1 paper

NM_015148.4

p.R455W

c.1363C>T

10 papers

NM_015148.4

p.R451*

c.1351C>T

1 paper

NM_015148.4

p.E432Q

c.1294G>C

1 paper

NM_015148.4

p.Q426R

c.1277A>G