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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAMT

GAMT

201 papers

RefSeq Summary

The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologi...

Pfam Domains

GuanidinoAc_N-MeTrfaseaa 8–236UCSCGuanidinoacetate N-methyltransferase

Gene Aliases

HGNC Name

guanidinoacetate N-methyltransferase

HGNC Alias Symbols

PIG2; TP53I2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 217 variants

36 papers

chr19:1399793 C>T

NM_000156.6

p.K109K

c.327G>A

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=681, hom=0)Genome: 0.0% (AC=25, hom=0)7 overlapping SVs

23 papers

chr19:1401418 C>G

NM_000156.6

p.W20S

c.59G>C

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=43, hom=0)Genome: 0.0% (AC=9, hom=0)2 overlapping SVs

15 papers

chr19:1398994 G>GC

NM_000156.6

p.G164_V165insFs

c.492_493insG

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=2, hom=0)3 overlapping SVs

14 papers

chr19:1401398 A>G

NM_000156.6

p.Y27H

c.79T>C

GuanidinoAc_N-MeTrfase

Exome: 0.5% (AC=5989, hom=18)Genome: 0.3% (AC=516, hom=4)2 overlapping SVs

11 papers

chr19:1398980 C>T

NM_000156.6

p.C169Y

c.506G>A

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=3, hom=0)Genome: n/a3 overlapping SVs

11 papers

chr19:1398965 C>T

NM_000156.6

p.W174*

c.521G>A

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)3 overlapping SVs

10 papers

chr19:1399184 C>T

NM_000156.6

p.D135N

c.403G>A

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=57, hom=0)Genome: 0.0% (AC=4, hom=0)3 overlapping SVs

10 papers

chr19:1399180 G>A

NM_000156.6

p.T136M

c.407C>T

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=1, hom=0)3 overlapping SVs

10 papers

chr19:1398964 C>T

NM_000156.6

p.W174*

c.522G>A

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=222, hom=0)Genome: 0.0% (AC=7, hom=0)3 overlapping SVs

9 papers

chr19:1401325 T>G

NM_000156.6

p.H51P

c.152A>C

GuanidinoAc_N-MeTrfase

exact variant not in gnomAD2 overlapping SVs

9 papers

chr19:1398994 GC>G

NM_000156.6

p.G164delFs

c.491delC

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=6, hom=0)3 overlapping SVs

8 papers

chr19:1401317 C>G

NM_000156.6

p.A54P

c.160G>C

GuanidinoAc_N-MeTrfase

exact variant not in gnomAD2 overlapping SVs

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