Varaico: Literature-Extracted Genetic Variants

Gene:CAMKMT

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
1–12 of 48 variants
3 papers
NM_024766.5
p.V165F
c.493G>T
2 papers
NM_024766.5
p.L148R
c.443T>G
2 papers
NM_024766.5
p.V165insFs
c.493_494ins4
1 paper
NM_024766.5
p.R28W
c.82C>T
1 paper
NM_024766.5
p.G29E
c.86G>A
1 paper
NM_024766.5
p.D54N
c.160G>A
1 paper
NM_024766.5
p.R58*
c.172C>T
1 paper
NM_024766.5
p.V73L
c.217G>C
1 paper
NM_024766.5
p.V73L
c.217G>T
1 paper
NM_024766.5
p.Y99*
c.297C>A
1 paper
NM_024766.5
p.Y99*
c.297C>G
1 paper
NM_024766.5
p.R104Splc
c.312-3312G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."