Varaico: Literature-Extracted Genetic Variants

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.R260Splc

c.779+42G>C

Surrounding Variants

1 paper

NM_005955.3

p.R260W

c.778C>T

5 papers

NM_005955.3

p.R251Q

c.752G>A

1 paper

NM_005955.3

p.H249R

c.746A>G

1 paper

NM_005955.3

p.T228T

c.684G>A

2 papers

NM_005955.3

p.L223F

c.667C>T

1 paper

NM_005955.3

p.R216Splc

c.648-104T>C

1 paper

NM_005955.3

p.R216Splc

c.648-109G>A

1 paper

NM_005955.3

p.R216Splc

c.647+3C>T

1 paper

NM_005955.3

p.L214insFs

c.641_642ins10

1 paper

NM_005955.3

p.G206G

c.618C>A

1 paper

NM_005955.3

p.G206D

c.617G>A

1 paper

NM_005955.3

p.V204L

c.610G>T