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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NNMT

NNMT

47 papers

RefSeq Summary

N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methi...

Pfam Domains

NNMT_PNMT_TEMTaa 1–259UCSCNNMT/PNMT/TEMT family

Gene Aliases

HGNC Name

nicotinamide N-methyltransferase

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 61 variants

4 papers

chr11:114296707 C>T

NM_006169.3

p.L51L

c.151C>T

NNMT_PNMT_TEMT

Exome: 0.0% (AC=1, hom=0)Genome: n/a17 overlapping SVs

3 papers

chr11:114296608 C>T

NM_006169.3

p.R18W

c.52C>T

NNMT_PNMT_TEMT

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=7, hom=0)17 overlapping SVs

2 papers

chr11:114312379 G>A

NM_006169.3

p.E233K

c.697G>A

NNMT_PNMT_TEMT

Exome: 0.0% (AC=16, hom=0)Genome: n/a18 overlapping SVs

2 papers

chr11:114312415 A>C

NM_006169.3

p.T245P

c.733A>C

NNMT_PNMT_TEMT

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr11:114296596 C>A

NM_006169.3

p.H14N

c.40C>A

NNMT_PNMT_TEMT

exact variant not in gnomAD17 overlapping SVs

1 paper

chr11:114296609 G>A

NM_006169.3

p.R18Q

c.53G>A

NNMT_PNMT_TEMT

Exome: 0.0% (AC=40, hom=1)Genome: 0.0% (AC=8, hom=0)17 overlapping SVs

1 paper

chr11:114296610 G>A

NM_006169.3

p.R18R

c.54G>A

NNMT_PNMT_TEMT

Exome: 0.0% (AC=1, hom=0)Genome: n/a17 overlapping SVs

1 paper

chr11:114296611 G>A

NM_006169.3

p.D19N

c.55G>A

NNMT_PNMT_TEMT

exact variant not in gnomAD17 overlapping SVs

1 paper

chr11:114296615 A>T

NM_006169.3

p.Y20F

c.59A>T

NNMT_PNMT_TEMT

exact variant not in gnomAD17 overlapping SVs

1 paper

chr11:114296622 A>G

NM_006169.3

p.E22E

c.66A>G

NNMT_PNMT_TEMT

exact variant not in gnomAD17 overlapping SVs

1 paper

chr11:114296626 T>C

NM_006169.3

p.Y24H

c.70T>C

NNMT_PNMT_TEMT

Exome: 0.0% (AC=2, hom=0)Genome: n/a17 overlapping SVs

1 paper

chr11:114296642 C>G

NM_006169.3

p.S29C

c.86C>G

NNMT_PNMT_TEMT

exact variant not in gnomAD17 overlapping SVs

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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."