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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAMT

Variant:p.S76L

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

3 papers

chr19:1399893 G>A

NM_000156.6

p.S76L

c.227C>T

GuanidinoAc_N-MeTrfase

Exome: 0.1% (AC=764, hom=2)Genome: 0.0% (AC=57, hom=1)7 overlapping SVs

Surrounding Variants

3 papers

chr19:1399896 G>A

NM_000156.6

p.A75V

c.224C>T

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr19:1399888 C>T

NM_000156.6

p.V78M

c.232G>A

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=3, hom=0)Genome: n/a7 overlapping SVs

3 papers

chr19:1399887 A>T

NM_000156.6

p.V78E

c.233T>A

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=2, hom=0)Genome: n/a7 overlapping SVs

2 papers

chr19:1399900 C>G

NM_000156.6

p.A74P

c.220G>C

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=4, hom=0)Genome: n/a7 overlapping SVs

2 papers

chr19:1399900 CG>C

NM_000156.6

p.I73delFs

c.219delG

GuanidinoAc_N-MeTrfase

exact variant not in gnomAD7 overlapping SVs

2 papers

chr19:1399885 G>A

NM_000156.6

p.Q79*

c.235C>T

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr19:1399906 C>A

NM_000156.6

p.A72S

c.214G>T

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=0, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr19:1399908 A>C

NM_000156.6

p.M71R

c.212T>G

GuanidinoAc_N-MeTrfase

exact variant not in gnomAD7 overlapping SVs

1 paper

chr19:1399908 A>G

NM_000156.6

p.M71T

c.212T>C

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr19:1399909 T>C

NM_000156.6

p.M71V

c.211A>G

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

1 paper

chr19:1399876 G>A

NM_000156.6

p.P82S

c.244C>T

GuanidinoAc_N-MeTrfase

Exome: 0.0% (AC=20, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr19:1399911 CCA>C

NM_000156.6

p.F69_G70delFs

c.207_208delCA

GuanidinoAc_N-MeTrfase

exact variant not in gnomAD7 overlapping SVs

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