Varaico: Literature-Extracted Genetic Variants

Gene:CLOCK
Variant:p.V5V

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.V5V
c.15A>G
Surrounding Variants
1 paper
NM_004898.4
p.V5I
c.13G>A
1 paper
NM_004898.4
p.C7fs
c.19_20fs
1 paper
NM_004898.4
p.T4S
c.11C>G
1 paper
NM_004898.4
p.T4P
c.10A>C
1 paper
NM_004898.4
p.M1I
c.3G>T
1 paper
NM_004898.4
p.S20R
c.58A>C
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.K35K
c.105A>G
1 paper
NM_004898.4
p.S38A
c.112T>G
1 paper
NM_004898.4
p.S42A
c.124T>G
1 paper
NM_004898.4
p.M60V
c.178A>G
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