Varaico: Literature-Extracted Genetic Variants

Gene:CLOCK
Variant:p.L123insFs

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.L123insFs
c.368_369insT
Surrounding Variants
2 papers
NM_004898.4
p.L123fs
c.367_368fs
4 papers
NM_004898.4
p.L123delFs
c.368delA
5 papers
NM_004898.4
p.L123*
c.368T>G
5 papers
NM_004898.4
p.L123*
c.368T>A
1 paper
NM_004898.4
p.I131V
c.391A>G
1 paper
NM_004898.4
p.I132V
c.394A>G
1 paper
NM_004898.4
p.V138V
c.414A>G
5 papers
NM_004898.4
p.F104S
c.311T>C
1 paper
NM_004898.4
p.D99_W100insFs
c.297_298insT
1 paper
NM_004898.4
p.I87I
c.261C>A
1 paper
NM_004898.4
p.V150L
c.448G>T
1 paper
NM_004898.4
p.V150L
c.448G>C
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