Varaico: Literature-Extracted Genetic Variants

Gene:CLOCK
Variant:p.S582_S583delFs

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.S582_S583delFs
c.1744_1747del4
Surrounding Variants
1 paper
NM_004898.4
p.S582fs
c.1744_1745fs
1 paper
NM_004898.4
p.N588N
c.1764T>C
1 paper
NM_004898.4
p.Q569L
c.1706A>T
1 paper
NM_004898.4
p.S632T
c.1894T>A
1 paper
NM_004898.4
p.G562A
c.1685G>C
1 paper
NM_004898.4
p.V558A
c.1673T>C
1 paper
NM_004898.4
p.E547A
c.1640A>C
2 papers
NM_004898.4
p.H542R
c.1625A>G
1 paper
NM_004898.4
p.A539V
c.1616C>T
1 paper
NM_004898.4
p.E538A
c.1613A>C
1 paper
NM_004898.4
p.G521V
c.1562G>T
1 paper
NM_004898.4
p.G521A
c.1562G>C
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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."