Varaico: Literature-Extracted Genetic Variants

Gene:CARNMT1
Variant:p.G21R

CARNMT1

25 papers

RefSeq Summary

The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well...

Pfam Domains

CARMEaa 144–409UCSCCarnosine N-methyltransferase

Gene Aliases

HGNC Name

carnosine N-methyltransferase 1

HGNC Previous Symbol

C9orf41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152420.3
p.G21R
c.61G>A
Surrounding Variants
2 papers
NM_152420.3
p.G21R
c.61G>C
1 paper
NM_152420.3
p.S25_E26ins0
c.73_78dup6
1 paper
NM_152420.3
p.P7T
c.19C>A
1 paper
NM_152420.3
p.R6C
c.16C>T
1 paper
NM_152420.3
p.M1I
c.3G>T
1 paper
NM_152420.3
p.M1I
c.3G>C
1 paper
NM_152420.3
p.M1I
c.3G>A
1 paper
NM_152420.3
p.T51M
c.152C>T
1 paper
NM_152420.3
p.S53N
c.158G>A
1 paper
NM_152420.3
p.E55del1
c.163_164delCTC
1 paper
NM_152420.3
p.F66insFs
c.198dupC
1 paper
NM_152420.3
p.G77D
c.230G>A
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