Varaico: Literature-Extracted Genetic Variants

Gene:CLOCK
Variant:p.R476T

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
2 papers
NM_004898.4
p.R476T
c.1427G>C
Surrounding Variants
1 paper
NM_004898.4
p.R477G
c.1429A>G
1 paper
NM_004898.4
p.K472*
c.1414A>T
1 paper
NM_004898.4
p.T457M
c.1370C>T
1 paper
NM_004898.4
p.S487P
c.1459T>C
1 paper
NM_004898.4
p.Q496H
c.1488G>T
1 paper
NM_004898.4
p.Q496H
c.1488G>C
1 paper
NM_004898.4
p.D447G
c.1340A>G
1 paper
NM_004898.4
p.V445I
c.1333G>A
1 paper
NM_004898.4
p.S436G
c.1306A>G
1 paper
NM_004898.4
p.S427I
c.1280G>T
1 paper
NM_004898.4
p.S427G
c.1279A>G
3 papers
NM_004898.4
p.L395I
c.1183C>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."