Varaico: Literature-Extracted Genetic Variants

Gene:CLOCK
Variant:p.E392Q

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.E392Q
c.1174G>C
Surrounding Variants
1 paper
NM_004898.4
p.G390D
c.1169G>A
3 papers
NM_004898.4
p.L395I
c.1183C>A
1 paper
NM_004898.4
p.S377S
c.1131T>C
1 paper
NM_004898.4
p.T374N
c.1121C>A
1 paper
NM_004898.4
p.F368_I369insT
c.1102_1106ins3
1 paper
NM_004898.4
p.N363S
c.1088A>G
1 paper
NM_004898.4
p.W362R
c.1084T>C
1 paper
NM_004898.4
p.W362R
c.1084T>A
1 paper
NM_004898.4
p.Q361P
c.1082A>C
1 paper
NM_004898.4
p.W348R
c.1042T>C
1 paper
NM_004898.4
p.W348R
c.1042T>A
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."