Varaico: Literature-Extracted Genetic Variants

Gene:MTF1
Variant:p.L125V

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.L125V
c.373C>G
Surrounding Variants
1 paper
NM_005955.3
p.C129S
c.385T>A
1 paper
NM_005955.3
p.C129S
c.386G>C
1 paper
NM_005955.3
p.R116Fs
c.347delinsTAAACCCTGGTTCCACACCCATGCCAAFs
1 paper
NM_005955.3
p.E136_V137insFs
c.408_409insAA
1 paper
NM_005955.3
p.S111delFs
c.333delG
1 paper
NM_005955.3
p.S111fs
c.331_332fs
1 paper
NM_005955.3
p.D101E
c.303T>A
1 paper
NM_005955.3
p.P100R
c.299C>G
1 paper
NM_005955.3
p.I98T
c.293T>C
1 paper
NM_005955.3
p.H96N
c.286C>A
1 paper
NM_005955.3
p.H82N
c.244C>A
1 paper
NM_005955.3
p.G80V
c.239G>T
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