Varaico: Literature-Extracted Genetic Variants

RREB1

205 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an R...

Pfam Domains

zf-C2H2aa 66–88UCSCZinc finger, C2H2 type

zf-C2H2aa 97–119UCSCZinc finger, C2H2 type

zf-C2H2aa 125–147UCSCZinc finger, C2H2 type

zf-C2H2_6aa 315–341UCSCC2H2-type zinc finger

zf-C2H2aa 671–693UCSCZinc finger, C2H2 type

zf-C2H2aa 1246–1268UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

ras responsive element binding protein 1

HGNC Alias Symbol

HNT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001003699.4

p.E61Q

c.181G>C

Surrounding Variants

1 paper

NM_001003699.4

p.K60K

c.180A>G

1 paper

NM_001003699.4

p.T59M

c.176C>T

1 paper

NM_001003699.4

p.C68fs

c.202_203fs

1 paper

NM_001003699.4

p.C68insFs

c.204dupC

1 paper

NM_001003699.4

p.I74M

c.222T>G

1 paper

NM_001003699.4

p.L81L

c.243G>A

1 paper

NM_001003699.4

p.H84Y

c.250C>T

2 papers

NM_001003699.4

p.D96N

c.286G>A

1 paper

NM_001003699.4

p.S98A

c.292T>G

2 papers

NM_001003699.4

p.G103R

c.307G>A

2 papers

NM_001003699.4

p.G103R

c.307G>C

1 paper

NM_001003699.4

p.G103G

c.309A>G