Varaico: Literature-Extracted Genetic Variants

Gene:MTF1
Variant:p.L723H

MTF1

93 papers

RefSeq Summary

This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver...

Pfam Domains

zf-C2H2aa 140–164UCSCZinc finger, C2H2 type
zf-C2H2aa 170–194UCSCZinc finger, C2H2 type
zf-C2H2aa 200–224UCSCZinc finger, C2H2 type
zf-C2H2aa 229–253UCSCZinc finger, C2H2 type
zf-C2H2aa 259–283UCSCZinc finger, C2H2 type
zf-C2H2aa 289–313UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

metal regulatory transcription factor 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005955.3
p.L723H
c.2168T>A
Surrounding Variants
1 paper
NM_005955.3
p.N731K
c.2193T>A
1 paper
NM_005955.3
p.I735T
c.2204T>C
1 paper
NM_005955.3
p.Q708K
c.2122C>A
1 paper
NM_005955.3
p.S752F
c.2255C>T
2 papers
NM_005955.3
p.P692T
c.2074C>A
1 paper
NM_005955.3
p.S688F
c.2063C>T
1 paper
NM_005955.3
p.A665S
c.1993G>T
1 paper
NM_005955.3
p.P657P
c.1971C>A
1 paper
NM_005955.3
p.R645W
c.1933C>T
1 paper
NM_005955.3
p.A631V
c.1892C>T
1 paper
NM_005955.3
p.A607D
c.1820C>A
1 paper
NM_005955.3
p.T602I
c.1805C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."