Varaico: Literature-Extracted Genetic Variants

Gene:CLOCK
Variant:p.M60V

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.M60V
c.178A>G
Surrounding Variants
1 paper
NM_004898.4
p.M60insFs
c.178_179ins8
1 paper
NM_004898.4
p.S71S
c.213T>C
1 paper
NM_004898.4
p.S42A
c.124T>G
1 paper
NM_004898.4
p.F80V
c.238T>G
1 paper
NM_004898.4
p.S38A
c.112T>G
1 paper
NM_004898.4
p.H84L
c.251A>T
1 paper
NM_004898.4
p.K35K
c.105A>G
1 paper
NM_004898.4
p.S20R
c.60T>G
1 paper
NM_004898.4
p.S20R
c.60T>A
1 paper
NM_004898.4
p.S20R
c.58A>C
1 paper
NM_004898.4
p.I87I
c.261C>A
1 paper
NM_004898.4
p.D99_W100insFs
c.297_298insT
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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."