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.W1262*

c.3786G>A

Surrounding Variants

1 paper

NM_015148.4

p.W1262*

c.3785G>A

4 papers

NM_015148.4

p.F1266C

c.3797T>G

1 paper

NM_015148.4

p.R1267*

c.3799C>T

1 paper

NM_015148.4

p.Q1233*

c.3697C>T

2 papers

NM_015148.4

p.L1231R

c.3692T>G

1 paper

NM_015148.4

p.S1273delFs

c.3819delA

1 paper

NM_015148.4

p.E1223Splc

c.3667+1G>T

1 paper

NM_015148.4

p.L1219L

c.3655C>T

3 papers

NM_015148.4

p.R1319H

c.3956G>A

1 paper

NM_015148.4

p.T1322delFs

c.3966delG

1 paper

NM_015148.4

p.V1210M

c.3628G>A

1 paper

NM_015148.4

p.C1204G

c.3610T>G