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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MT1M

MT1M

51 papers

RefSeq Summary

This gene encodes a member of the metallothionein superfamily, type 1 family. Metallothioneins have a high content of cysteine residues that bind various heavy metals. These genes are transcriptionall...

Pfam Domains

Metallothioaa 1–61UCSCMetallothionein

Gene Aliases

HGNC Name

metallothionein 1M

HGNC Previous Symbols

MT1; MT1K

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 27 variants

3 papers

chr16:56632756 A>T

NM_176870.3

p.T9S

c.25A>T

Metallothio

exact variant not in gnomAD13 overlapping SVs

3 papers

chr16:56633370 C>A

NM_176870.3

p.T20K

c.59C>A

Metallothio

Exome: 83.9% (AC=1226355, hom=516546)Genome: 76.9% (AC=117003, hom=45971)17 overlapping SVs

2 papers

chr16:56633382 G>A

NM_176870.3

p.C24Y

c.71G>A

Metallothio

Exome: 0.2% (AC=2681, hom=3)Genome: 0.1% (AC=149, hom=0)17 overlapping SVs

2 papers

chr16:56633760 C>T

NM_176870.3

p.S35F

c.104C>T

Metallothio

Exome: 0.2% (AC=2251, hom=3)Genome: 0.1% (AC=137, hom=0)18 overlapping SVs

2 papers

chr16:56633808 A>G

NM_176870.3

p.K51R

c.152A>G

Metallothio

exact variant not in gnomAD18 overlapping SVs

1 paper

chr16:56632733 T>G

NM_176870.3

p.M1R

c.2T>G

Metallothio

exact variant not in gnomAD13 overlapping SVs

1 paper

chr16:56632734 G>C

NM_176870.3

p.M1I

c.3G>C

Metallothio

exact variant not in gnomAD13 overlapping SVs

1 paper

chr16:56632738 C>T

NM_176870.3

p.P3S

c.7C>T

Metallothio

exact variant not in gnomAD13 overlapping SVs

1 paper

chr16:56632745 G>A

NM_176870.3

p.C5Y

c.14G>A

Metallothio

Exome: 0.0% (AC=454, hom=0)Genome: 0.0% (AC=55, hom=0)13 overlapping SVs

1 paper

chr16:56632757 C>T

NM_176870.3

p.T9I

c.26C>T

Metallothio

exact variant not in gnomAD13 overlapping SVs

1 paper

chr16:56632759 G>C

NM_176870.3

p.G10R

c.28G>C

Metallothio

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr16:56633351 G>C

NM_176870.3

p.A14P

c.40G>C

Metallothio

Exome: 0.0% (AC=12, hom=0)Genome: n/a17 overlapping SVs

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