Varaico: Literature-Extracted Genetic Variants

Gene:PASK
Variant:p.F748L

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.F748L
c.2244C>G
Surrounding Variants
1 paper
NM_015148.4
p.F748L
c.2244C>A
1 paper
NM_015148.4
p.F748L
c.2242T>C
1 paper
NM_015148.4
p.D753Y
c.2257G>T
2 papers
NM_015148.4
p.T763M
c.2288C>T
4 papers
NM_015148.4
p.Q732*
c.2194C>T
1 paper
NM_015148.4
p.L766L
c.2298C>A
3 papers
NM_015148.4
p.L722P
c.2165T>C
1 paper
NM_015148.4
p.A717T
c.2149G>A
3 papers
NM_015148.4
p.G782R
c.2344G>C
1 paper
NM_015148.4
p.S713*
c.2138C>G
1 paper
NM_015148.4
p.S713*
c.2138C>A
1 paper
NM_015148.4
p.G788W
c.2362G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."