Varaico: Literature-Extracted Genetic Variants

Gene:TESMIN
Variant:p.E2A

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004923.3
p.E2A
c.5A>C
Surrounding Variants
1 paper
NM_004923.3
p.P13S
c.37C>T
1 paper
NM_004923.3
p.L22L
c.66A>G
1 paper
NM_004923.3
p.P38L
c.113C>T
1 paper
NM_004923.3
p.H47Q
c.141C>G
1 paper
NM_004923.3
p.H47Q
c.141C>A
1 paper
NM_004923.3
p.H65Y
c.193C>T
1 paper
NM_004923.3
p.A66G
c.197C>G
1 paper
NM_004923.3
p.D74G
c.221A>G
1 paper
NM_004923.3
p.G86C
c.256G>T
1 paper
NM_004923.3
p.G86fs
c.256_257fs
1 paper
NM_004923.3
p.G95R
c.283G>C
1 paper
NM_004923.3
p.G95R
c.283G>A
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