Varaico: Literature-Extracted Genetic Variants

Gene:CARNMT1
Variant:p.P408S

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.P408S
c.1222C>T
Surrounding Variants
1 paper
NM_152420.3
p.M394I
c.1182G>T
1 paper
NM_152420.3
p.M394I
c.1182G>C
1 paper
NM_152420.3
p.M394I
c.1182G>A
1 paper
NM_152420.3
p.I357L
c.1069A>T
1 paper
NM_152420.3
p.I357L
c.1069A>C
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