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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:INMT

INMT

46 papers

RefSeq Summary

N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing result...

Pfam Domains

NNMT_PNMT_TEMTaa 1–259UCSCNNMT/PNMT/TEMT family

Gene Aliases

HGNC Name

indolethylamine N-methyltransferase

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 39 variants

6 papers

chr7:30752232 G>A

NM_006774.5

p.D28N

c.82G>A

NNMT_PNMT_TEMT

Exome: 36.7% (AC=535874, hom=102252)Genome: 34.2% (AC=52033, hom=9423)86 overlapping SVs

5 papers

chr7:30752287 A>C

NM_006774.5

p.H46P

c.137A>C

NNMT_PNMT_TEMT

Exome: 0.8% (AC=11458, hom=74)Genome: 0.6% (AC=963, hom=10)87 overlapping SVs

3 papers

chr7:30755672 A>G

NM_006774.5

p.M205V

c.613A>G

NNMT_PNMT_TEMT

Exome: 31.4% (AC=458847, hom=73994)Genome: 27.4% (AC=41647, hom=6159)86 overlapping SVs

3 papers

chr7:30755694 C>T

NM_006774.5

p.S212F

c.635C>T

NNMT_PNMT_TEMT

Exome: 0.0% (AC=1, hom=0)Genome: n/a86 overlapping SVs

3 papers

chr7:30755715 A>G

NM_006774.5

p.E219G

c.656A>G

NNMT_PNMT_TEMT

Exome: 41.6% (AC=608160, hom=131168)Genome: 34.1% (AC=51903, hom=10649)86 overlapping SVs

3 papers

chr7:30755820 T>G

NM_006774.5

p.F254C

c.761T>G

NNMT_PNMT_TEMT

Exome: 87.6% (AC=1279539, hom=562899)Genome: 80.4% (AC=122280, hom=50442)86 overlapping SVs

2 papers

chr7:30753828 C>T

NM_006774.5

p.S84S

c.252C>T

NNMT_PNMT_TEMT

Exome: 0.0% (AC=195, hom=0)Genome: 0.1% (AC=207, hom=0)87 overlapping SVs

2 papers

chr7:30753847 C>T

NM_006774.5

p.R91W

c.271C>T

NNMT_PNMT_TEMT

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=2, hom=0)87 overlapping SVs

2 papers

chr7:30755712 A>G

NM_006774.5

p.K218R

c.653A>G

NNMT_PNMT_TEMT

exact variant not in gnomAD86 overlapping SVs

2 papers

chr7:30755817 G>T

NM_006774.5

p.C253F

c.758G>T

NNMT_PNMT_TEMT

exact variant not in gnomAD86 overlapping SVs

1 paper

chr7:30752209 A>T

NM_006774.5

p.Y20F

c.59A>T

NNMT_PNMT_TEMT

exact variant not in gnomAD86 overlapping SVs

1 paper

chr7:30752220 T>A

NM_006774.5

p.Y24N

c.70T>A

NNMT_PNMT_TEMT

exact variant not in gnomAD86 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."