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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAMT

Variant:p.Y27H

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

Selected Variant

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

Surrounding Variants

1 paper

chr19:1401400 G>A

NM_000156.6

p.A26V

c.77C>T

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=1, hom=0)Genome: n/a2 overlapping SVs

1 paper

chr19:1401408 C>CN

NM_000156.6

p.A23fs

c.67_68fs

GuanidinoAc_N-MeTrfase

exact variant not in gnomAD2 overlapping SVs

1 paper

chr19:1401408 C>T

NM_000156.6

p.A23A

c.69G>A

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=1, hom=0)Genome: n/a2 overlapping SVs

1 paper

chr19:1401409 G>GC

NM_000156.6

p.A23insFs

c.67dupG

GuanidinoAc_N-MeTrfase

exact variant not in gnomAD2 overlapping SVs

1 paper

chr19:1401412 G>C

NM_000156.6

p.A22G

c.65C>G

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=1, hom=0)Genome: n/a2 overlapping SVs

7 papers

chr19:1401412 G>GC

NM_000156.6

p.A22insFs

c.64dupG

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)2 overlapping SVs

1 paper

chr19:1401413 CGC>N

NM_000156.6

p.A22fs

c.64_65fs

GuanidinoAc_N-MeTrfase

exact variant not in gnomAD2 overlapping SVs

1 paper

chr19:1401382 G>C

NM_000156.6

p.T32R

c.95C>G

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=0, hom=0)Genome: n/a2 overlapping SVs

2 papers

chr19:1401418 C>CA

NM_000156.6

p.W20insFs

c.58dupT

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=1, hom=0)Genome: n/a2 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

1 paper

chr19:1401419 CCA>N

NM_000156.6

p.W20fs

c.58_59fs

GuanidinoAc_N-MeTrfase

exact variant not in gnomAD2 overlapping SVs

1 paper

chr19:1401368 G>T

NM_000156.6

p.L37M

c.109C>A

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=0, hom=0)Genome: n/a2 overlapping SVs

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