Varaico: Literature-Extracted Genetic Variants

Gene:CLOCK
Variant:p.L328Splc

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.L328Splc
c.982+247G>C
Surrounding Variants
1 paper
NM_004898.4
p.L328Splc
c.982+133T>G
1 paper
NM_004898.4
p.L328Splc
c.982+116G>A
1 paper
NM_004898.4
p.E326K
c.976G>A
1 paper
NM_004898.4
p.Y299C
c.896A>G
1 paper
NM_004898.4
p.G298G
c.894G>T
1 paper
NM_004898.4
p.I297_G298insT
c.889_893ins3
1 paper
NM_004898.4
p.P294L
c.881C>T
2 papers
NM_004898.4
p.F288L
c.862T>C
1 paper
NM_004898.4
p.L287M
c.859C>A
1 paper
NM_004898.4
p.K264_E265Splc
c.793-1130T>C
1 paper
NM_004898.4
p.T343A
c.1027A>G
1 paper
NM_004898.4
p.K344T
c.1031A>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."