Varaico: Literature-Extracted Genetic Variants

Gene:TESMIN
Variant:p.N380D

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.N380D
c.1138A>G
Surrounding Variants
1 paper
NM_004923.3
p.C384Y
c.1151G>A
1 paper
NM_004923.3
p.S375P
c.1123T>C
1 paper
NM_004923.3
p.G369W
c.1105G>T
2 papers
NM_004923.3
p.L343F
c.1027C>T
1 paper
NM_004923.3
p.R409Q
c.1226G>A
1 paper
NM_004923.3
p.L430fs
c.1288_1289fs
1 paper
NM_004923.3
p.L430delFs
c.1289delA
1 paper
NM_004923.3
p.T433A
c.1297A>G
1 paper
NM_004923.3
p.H443L
c.1328A>T
1 paper
NM_004923.3
p.D444H
c.1330G>C
1 paper
NM_004923.3
p.R335P
c.1004G>C
1 paper
NM_004923.3
p.C320_L329del0
c.959_985del27
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