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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TESMIN

Variant:p.A280G

TESMIN

35 papers

RefSeq Summary

Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role ...

Pfam Domains

TCRaa 367–404UCSCTesmin/TSO1-like CXC domain, cysteine-rich domain

Gene Aliases

HGNC Name

testis expressed metallothionein like protein

HGNC Previous Symbol

MTL5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:68738778 G>C

NM_004923.3

p.A280G

c.839C>G

Exome: 0.1% (AC=2121, hom=7)Genome: 0.1% (AC=228, hom=0)33 overlapping SVs

Surrounding Variants

1 paper

chr11:68742367 A>G

NM_004923.3

p.V260A

c.779T>C

Exome: 1.3% (AC=19166, hom=168)Genome: 1.0% (AC=1505, hom=11)33 overlapping SVs

3 papers

chr11:68745075 A>G

NM_004923.3

p.C223R

c.667T>C

Exome: 9.6% (AC=138456, hom=7098)Genome: 8.1% (AC=12267, hom=641)33 overlapping SVs

1 paper

chr11:68747210 T>A

NM_004923.3

p.M210L

c.628A>T

exact variant not in gnomAD33 overlapping SVs

1 paper

chr11:68747210 T>G

NM_004923.3

p.M210L

c.628A>C

exact variant not in gnomAD33 overlapping SVs

1 paper

chr11:68747269 G>A

NM_004923.3

p.P190L

c.569C>T

Exome: 0.0% (AC=6, hom=0)Genome: n/a33 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."