Varaico: Literature-Extracted Genetic Variants

Gene:MTF1
Variant:p.N460S

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.N460S
c.1379A>G
Surrounding Variants
1 paper
NM_005955.3
p.P445S
c.1333C>T
1 paper
NM_005955.3
p.A479A
c.1437T>C
1 paper
NM_005955.3
p.A480S
c.1438G>T
1 paper
NM_005955.3
p.P440S
c.1318C>T
1 paper
NM_005955.3
p.P430T
c.1288C>A
1 paper
NM_005955.3
p.V501L
c.1501G>C
1 paper
NM_005955.3
p.S414L
c.1241C>T
1 paper
NM_005955.3
p.P408delFs
c.1223delG
1 paper
NM_005955.3
p.P408_P409insAA
c.1222_1226ins6
1 paper
NM_005955.3
p.V404I
c.1210G>A
1 paper
NM_005955.3
p.E402*
c.1204G>T
1 paper
NM_005955.3
p.F397_N398insFs
c.1191_1192insC
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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."