Varaico: Literature-Extracted Genetic Variants

Gene:CLOCK
Variant:p.P807S

CLOCK

153 papers

RefSeq Summary

The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA bi...

Pfam Domains

HLHaa 35–85UCSCHelix-loop-helix DNA-binding domain
PASaa 109–189UCSCPAS fold
PAS_11aa 273–380UCSCPAS domain

Gene Aliases

HGNC Name

clock circadian regulator

HGNC Alias Symbols

KIAA0334; KAT13D; bHLHe8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004898.4
p.P807S
c.2419C>T
Surrounding Variants
1 paper
NM_004898.4
p.T812A
c.2434A>G
1 paper
NM_004898.4
p.Q815E
c.2443C>G
1 paper
NM_004898.4
p.Q799E
c.2395C>G
1 paper
NM_004898.4
p.Q775P
c.2324A>C
6 papers
NM_004898.4
p.Q755del1
c.2263_2264delCTG
1 paper
NM_004898.4
p.Q760E
c.2278C>G
1 paper
NM_004898.4
p.G721E
c.2162G>A
1 paper
NM_004898.4
p.A719A
c.2157T>C
1 paper
NM_004898.4
p.I701T
c.2102T>C
1 paper
NM_004898.4
p.R699K
c.2096G>A
1 paper
NM_004898.4
p.G673R
c.2017G>C
1 paper
NM_004898.4
p.G673R
c.2017G>A
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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."