Varaico: Literature-Extracted Genetic Variants

Gene:CAMKMT
Variant:p.V165insFs

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
2 papers
NM_024766.5
p.V165insFs
c.493_494ins4
Surrounding Variants
1 paper
NM_024766.5
p.V165fs
c.493_494fs
3 papers
NM_024766.5
p.V165F
c.493G>T
1 paper
NM_024766.5
p.M164_V165Splc
c.493-1G>T
1 paper
NM_024766.5
p.V165A
c.494T>C
1 paper
NM_024766.5
p.V165delFs
c.493delG
1 paper
NM_024766.5
p.A166fs
c.496_497fs
1 paper
NM_024766.5
p.A166S
c.496G>T
1 paper
NM_024766.5
p.D170N
c.508G>A
1 paper
NM_024766.5
p.G179R
c.535G>A
2 papers
NM_024766.5
p.L148R
c.443T>G
1 paper
NM_024766.5
p.L134F
c.402G>C
1 paper
NM_024766.5
p.L134F
c.402G>T
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