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

1–12 of 222 variants

10 papers

NM_015148.4

p.R451*

c.1351C>T

6 papers

NM_015148.4

p.P860fs

c.2578_2579fs

5 papers

NM_015148.4

p.C859delFs

c.2577delG

4 papers

NM_015148.4

p.T62I

c.185C>T

4 papers

NM_015148.4

p.V250I

c.748G>A

4 papers

NM_015148.4

p.Q732*

c.2194C>T

4 papers

NM_015148.4

p.K1028R

c.3083A>G

4 papers

NM_015148.4

p.P1178Splc

c.3533+1G>A

4 papers

NM_015148.4

p.F1266C

c.3797T>G

3 papers

NM_015148.4

p.Q468insFs

c.1403dupA

3 papers

NM_015148.4

p.V677delFs

c.2030delA

3 papers

NM_015148.4

p.L722P

c.2165T>C