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.L402V

c.1204C>G

Surrounding Variants

1 paper

NM_015148.4

p.D410G

c.1229A>G

1 paper

NM_015148.4

p.N413fs

c.1237_1238fs

1 paper

NM_015148.4

p.N413insFs

c.1238dupA

1 paper

NM_015148.4

p.Y389N

c.1165T>A

2 papers

NM_015148.4

p.G387G

c.1161T>C

2 papers

NM_015148.4

p.G387G

c.1161T>A

1 paper

NM_015148.4

p.R420fs

c.1258_1259fs

1 paper

NM_015148.4

p.T382S

c.1144A>T

1 paper

NM_015148.4

p.Q426R

c.1277A>G

1 paper

NM_015148.4

p.E432Q

c.1294G>C

1 paper

NM_015148.4

p.L377_G378del2

c.1129_1133del6

1 paper

NM_015148.4

p.G378V

c.1133G>T