Varaico: Literature-Extracted Genetic Variants

Gene:MT1A
Variant:p.C48R

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005946.3
p.C48R
c.142T>C
Surrounding Variants
1 paper
NM_005946.3
p.G47D
c.140G>A
1 paper
NM_005946.3
p.G47C
c.139G>T
2 papers
NM_005946.3
p.I49N
c.146T>A
1 paper
NM_005946.3
p.I49M
c.147C>G
1 paper
NM_005946.3
p.Q46K
c.136C>A
1 paper
NM_005946.3
p.C50G
c.148T>G
1 paper
NM_005946.3
p.C50C
c.150C>T
12 papers
NM_005946.3
p.K51R
c.152A>G
1 paper
NM_005946.3
p.K43M
c.128A>T
1 paper
NM_005946.3
p.G52G
c.156G>C
1 paper
NM_005946.3
p.A42P
c.124G>C
1 paper
NM_005946.3
p.E55G
c.164A>G
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