Varaico: Literature-Extracted Genetic Variants

Gene:CAMKMT
Variant:p.R104Splc

CAMKMT

44 papers

RefSeq Summary

This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent ...

Pfam Domains

Methyltransf_16aa 110–278UCSCLysine methyltransferase

Gene Aliases

HGNC Name

calmodulin-lysine N-methyltransferase

HGNC Previous Symbol

C2orf34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024766.5
p.R104Splc
c.312-3312G>C
Surrounding Variants
1 paper
NM_024766.5
p.S118R
c.352A>C
1 paper
NM_024766.5
p.S118R
c.354C>A
1 paper
NM_024766.5
p.S118R
c.354C>G
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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."