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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MT1A

MT1A

68 papers

RefSeq Summary

This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal...

Pfam Domains

Metallothioaa 1–61UCSCMetallothionein

Gene Aliases

HGNC Name

metallothionein 1A

HGNC Previous Symbols

MT1; MT1S

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 45 variants

12 papers

chr16:56639916 A>G

NM_005946.3

p.K51R

c.152A>G

Metallothio

Exome: 13.2% (AC=192508, hom=13194)Genome: 14.5% (AC=22152, hom=1641)9 overlapping SVs

6 papers

chr16:56639315 C>A

NM_005946.3

p.T27N

c.80C>A

Metallothio

Exome: 63.1% (AC=920528, hom=294576)Genome: 53.9% (AC=81951, hom=24159)10 overlapping SVs

2 papers

chr16:56638763 A>T

NM_005946.3

p.T9S

c.25A>T

Metallothio

exact variant not in gnomAD11 overlapping SVs

2 papers

chr16:56639236 A>G

NM_005946.3

p.G10Splc

c.29-28A>G

Exome: 72.4% (AC=1055031, hom=383489)Genome: 66.8% (AC=101535, hom=34550)10 overlapping SVs

2 papers

chr16:56639285 G>C

NM_005946.3

p.G17A

c.50G>C

Metallothio

exact variant not in gnomAD10 overlapping SVs

2 papers

chr16:56639910 T>A

NM_005946.3

p.I49N

c.146T>A

Metallothio

exact variant not in gnomAD9 overlapping SVs

1 paper

chr16:56638740 T>G

NM_005946.3

p.M1R

c.2T>G

Metallothio

exact variant not in gnomAD11 overlapping SVs

1 paper

chr16:56638741 G>C

NM_005946.3

p.M1I

c.3G>C

Metallothio

exact variant not in gnomAD11 overlapping SVs

1 paper

chr16:56638745 C>T

NM_005946.3

p.P3S

c.7C>T

Metallothio

exact variant not in gnomAD11 overlapping SVs

1 paper

chr16:56638752 G>A

NM_005946.3

p.C5Y

c.14G>A

Metallothio

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr16:56638760 G>T

NM_005946.3

p.A8S

c.22G>T

Metallothio

exact variant not in gnomAD11 overlapping SVs

1 paper

chr16:56638764 C>T

NM_005946.3

p.T9I

c.26C>T

Metallothio

exact variant not in gnomAD11 overlapping SVs

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